CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

Summary

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

Known Variants409 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs574135903	2:175,612,353	T/A	—	conflicting classifications of pathogenicity
rs544906046	2:175,612,386	C/G	—	uncertain significance
rs542750994	2:175,612,391	T/A	—	uncertain significance
rs115375214	2:175,612,426	G/T	—	likely benign
rs184095877	2:175,612,430	C/A	—	conflicting classifications of pathogenicity
rs886055146	2:175,612,438	A/T	—	uncertain significance
rs560280191	2:175,612,441	C/T	—	conflicting classifications of pathogenicity
rs768887652	2:175,612,469	A/G	—	uncertain significance
rs886055147	2:175,612,494	G/A	—	uncertain significance
rs1453724345	2:175,612,542	G/A	—	uncertain significance
rs564090863	2:175,612,564	C/T	—	uncertain significance
rs886055148	2:175,612,577	T/C	—	uncertain significance
rs79539026	2:175,612,634	G/A	—	likely benign
rs1683764773	2:175,612,722	T/A	—	uncertain significance
rs867744338	2:175,612,751	G/A	—	uncertain significance
rs2468885722	2:175,612,878	G/A	—	uncertain significance
rs1345496434	2:175,612,881	G/A	—	uncertain significance
rs1683769492	2:175,612,883	C/T	—	uncertain significance
rs1304235259	2:175,612,892	A/T	—	uncertain significance
rs372104868	2:175,612,893	C/T	—	uncertain significance
rs771587252	2:175,612,894	G/A	—	conflicting classifications of pathogenicity
rs779379425	2:175,612,897	T/A	—	likely benign
rs768407867	2:175,612,905	C/T	—	pathogenic
rs776420240	2:175,612,906	G/A	—	likely benign
rs1683771023	2:175,612,907	A/G	—	uncertain significance
rs1479795714	2:175,612,908	T/C	—	uncertain significance
rs137852808	2:175,612,912	G/C	missense variant	pathogenic
rs2468885812	2:175,612,913	C/T	—	uncertain significance
rs2468885819	2:175,612,914	A/G	—	uncertain significance
rs2468885829	2:175,612,919	A/G	—	uncertain significance
rs1206611410	2:175,612,922	A/T	—	uncertain significance
rs151081792	2:175,612,932	C/T	—	conflicting classifications of pathogenicity
rs146899588	2:175,612,933	G/A	—	conflicting classifications of pathogenicity
rs759664482	2:175,612,938	G/A	—	uncertain significance
rs1173467478	2:175,612,942	G/A	—	likely benign
rs2468885886	2:175,612,944	G/T	—	uncertain significance
rs767659115	2:175,612,948	C/G	—	uncertain significance
rs761249168	2:175,612,957	T/C	—	likely benign
rs2468885921	2:175,612,959	C/T	—	uncertain significance
rs764451540	2:175,612,960	A/T	—	uncertain significance
rs754320308	2:175,612,962	C/T	—	uncertain significance
rs1332824705	2:175,612,963	G/A	—	likely benign
rs1438430247	2:175,612,964	T/C	—	uncertain significance
rs61731797	2:175,612,971	A/T	—	uncertain significance
rs1553541913	2:175,612,972	C/T	—	likely benign
rs17838545	2:175,612,978	C/T	—	conflicting classifications of pathogenicity
rs367751078	2:175,612,979	G/A	—	uncertain significance
rs372181669	2:175,612,981	C/T	—	uncertain significance
rs200394375	2:175,612,982	G/A	—	uncertain significance
rs1574002055	2:175,612,986	G/A	—	uncertain significance
rs1683774498	2:175,612,990	G/A	—	likely benign
rs17838546	2:175,613,021	A/G	—	benign
rs3816448	2:175,613,059	C/A	—	benign
rs2255918	2:175,613,115	A/G	—	benign
rs2305413	2:175,613,165	G/C	—	benign
rs2305414	2:175,613,169	C/A	—	benign
rs2305415	2:175,613,273	A/T	—	benign
rs1683781720	2:175,613,291	C/T	—	likely benign
rs905862822	2:175,613,297	A/T	—	likely benign
rs758078454	2:175,613,298	C/T	—	likely benign
rs199545638	2:175,613,308	A/C	—	uncertain significance
rs61737716	2:175,613,317	C/A	—	likely benign
rs781158981	2:175,613,319	C/T	—	uncertain significance
rs1291588996	2:175,613,329	C/A	—	uncertain significance
rs2468886670	2:175,613,335	G/T	—	likely benign
rs756006671	2:175,613,344	G/A	—	likely benign
rs137916282	2:175,613,351	T/C	—	uncertain significance
rs2468886709	2:175,613,354	A/G	—	uncertain significance
rs1683784412	2:175,613,356	G/T	—	likely benign
rs747162643	2:175,613,361	C/T	—	uncertain significance
rs768878508	2:175,613,366	G/A	—	conflicting classifications of pathogenicity
rs776811077	2:175,613,368	A/T	—	uncertain significance
rs762411124	2:175,613,379	C/T	—	uncertain significance
rs141280544	2:175,613,380	G/C	—	likely benign
rs202090282	2:175,613,388	T/G	—	uncertain significance
rs751153789	2:175,613,397	G/A	—	uncertain significance
rs759182381	2:175,613,399	G/A	—	uncertain significance
rs767048858	2:175,613,407	G/A	—	conflicting classifications of pathogenicity
rs149292107	2:175,613,411	A/G	—	conflicting classifications of pathogenicity
rs756980389	2:175,613,413	G/A	—	likely benign
rs747224747	2:175,613,420	G/C	—	uncertain significance
rs1314296013	2:175,613,422	C/A	—	likely benign
rs1683786611	2:175,613,427	G/A	—	uncertain significance
rs942359952	2:175,613,453	A/G	—	uncertain significance
rs146771663	2:175,613,462	G/A	—	uncertain significance
rs6739001	2:175,613,477	T/A	—	benign
rs1278454430	2:175,613,479	T/C	—	likely benign
rs2468886994	2:175,613,482	C/T	—	likely benign
rs146863119	2:175,613,483	T/G	—	conflicting classifications of pathogenicity
rs144533405	2:175,613,486	T/C	—	conflicting classifications of pathogenicity
rs1574002549	2:175,613,492	G/T	—	uncertain significance
rs767099816	2:175,613,495	G/A	—	uncertain significance
rs2105344397	2:175,613,497	T/G	—	uncertain significance
rs1683788396	2:175,613,502	T/G	—	uncertain significance
rs1683788450	2:175,613,503	C/T	—	uncertain significance
rs760175390	2:175,613,505	T/C	—	uncertain significance
rs1683788656	2:175,613,510	G/C	—	uncertain significance
rs2105344415	2:175,613,529	G/A	—	uncertain significance
rs1392812802	2:175,613,534	G/A	—	uncertain significance
rs757178381	2:175,613,538	C/G	—	uncertain significance

Showing 100 of 409 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.