CACNA1I

calcium voltage-gated channel subunit alpha1 I

Summary

This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

Known Variants258 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs60192012	22:39,966,777	C/T	—	benign
rs1285437076	22:39,966,806	G/A	—	uncertain significance
rs748236821	22:39,966,825	C/T	—	uncertain significance
rs2518048156	22:39,966,830	C/G	—	uncertain significance
rs3747178	22:39,966,856	C/T	—	benign
rs781264945	22:39,966,879	C/A	—	uncertain significance
rs2518048400	22:39,966,963	G/A	—	uncertain significance
rs3788556	22:39,972,162	T/A	—	—
rs5757736	22:39,975,307	G/A	intron variant	—
rs132571	22:39,976,133	A/G	—	—
rs5750853	22:39,976,186	C/T	intron variant	—
rs4522708	22:39,985,283	G/A	intron variant	—
rs2518080308	22:39,994,211	A/G	—	uncertain significance
rs771894093	22:39,994,228	C/G	—	uncertain significance
rs370960257	22:39,994,246	C/G	—	likely benign
rs375201237	22:39,996,517	C/T	—	likely benign
rs1245399964	22:39,996,565	T/G	—	uncertain significance
rs2145828528	22:39,996,646	T/A	—	uncertain significance
rs6001637	22:40,001,083	A/C	—	—
rs60795524	22:40,015,321	C/T	—	benign
rs1267815991	22:40,015,416	A/G	—	uncertain significance
rs60675234	22:40,030,685	G/A	—	likely benign
rs1352534420	22:40,030,688	C/T	—	likely benign
rs755283651	22:40,030,709	C/G	—	uncertain significance
rs377452504	22:40,030,710	C/A	—	uncertain significance
rs2146412499	22:40,030,714	A/C	—	uncertain significance
rs2518128573	22:40,030,728	A/G	—	uncertain significance
rs748220735	22:40,036,877	G/A	—	uncertain significance
rs1008375623	22:40,036,894	C/G	—	uncertain significance
rs149938037	22:40,036,908	G/A	—	likely benign
rs368361255	22:40,036,915	G/T	—	uncertain significance
rs111404878	22:40,036,950	C/T	—	benign
rs2518135409	22:40,036,966	G/C	—	uncertain significance
rs1338767684	22:40,036,985	C/T	—	uncertain significance
rs767554184	22:40,037,003	G/A	—	uncertain significance
rs371381957	22:40,037,028	C/T	—	likely benign
rs371850386	22:40,037,029	G/A	—	uncertain significance
rs59635914	22:40,037,036	A/G	—	likely benign
rs775955886	22:40,037,045	C/T	—	conflicting classifications of pathogenicity
rs59986512	22:40,037,051	G/A	—	likely benign
rs2146419851	22:40,037,099	A/T	—	uncertain significance
rs750837338	22:40,037,114	C/T	—	uncertain significance
rs1934342480	22:40,037,158	A/G	—	uncertain significance
rs750751457	22:40,038,794	C/T	—	likely benign
rs2518137190	22:40,038,833	T/A	—	uncertain significance
rs2146426435	22:40,042,595	A/G	—	uncertain significance
rs2146426462	22:40,042,608	T/A	—	uncertain significance
rs993634651	22:40,042,670	C/T	—	uncertain significance
rs952859005	22:40,042,695	C/G	—	uncertain significance
rs1363524374	22:40,042,701	C/T	—	uncertain significance
rs779606456	22:40,042,709	G/A	—	uncertain significance
rs148142625	22:40,042,711	C/T	—	likely benign
rs1489978770	22:40,042,715	C/T	—	uncertain significance
rs61623451	22:40,042,720	C/T	—	benign
rs1243131816	22:40,042,721	G/A	—	uncertain significance
rs556557800	22:40,042,735	G/C	—	uncertain significance
rs201769752	22:40,042,737	T/C	—	uncertain significance
rs776041387	22:40,042,738	C/A	—	likely benign
rs894913120	22:40,042,747	T/C	—	likely benign
rs1428612116	22:40,042,757	A/G	—	uncertain significance
rs780676438	22:40,042,788	G/A	—	uncertain significance
rs764588498	22:40,042,811	C/T	—	uncertain significance
rs752533365	22:40,042,812	G/A	—	uncertain significance
rs201381034	22:40,042,840	G/T	—	likely benign
rs1263551029	22:40,042,847	G/A	—	uncertain significance
rs913392305	22:40,042,877	C/T	—	uncertain significance
rs531582088	22:40,042,878	G/A	—	uncertain significance
rs372744428	22:40,043,824	C/T	—	likely benign
rs2518142954	22:40,043,842	G/A	—	uncertain significance
rs1242284108	22:40,043,862	C/T	—	uncertain significance
rs57911777	22:40,043,867	C/T	—	benign
rs1934536619	22:40,043,872	G/A	—	uncertain significance
rs139376782	22:40,043,874	C/T	—	likely benign
rs200563615	22:40,043,909	T/C	—	likely benign
rs60658758	22:40,045,537	G/A	—	likely benign
rs368094513	22:40,045,551	T/C	—	uncertain significance
rs952792829	22:40,045,554	T/C	—	uncertain significance
rs538823777	22:40,045,568	G/A	—	uncertain significance
rs60975716	22:40,045,572	C/G	—	uncertain significance
rs752806605	22:40,045,573	G/A	—	likely benign
rs2518145276	22:40,045,585	T/A	—	uncertain significance
rs368239983	22:40,045,589	G/T	—	uncertain significance
rs1050382500	22:40,045,603	C/G	—	uncertain significance
rs746316764	22:40,045,622	C/T	—	uncertain significance
rs746193365	22:40,045,625	C/T	—	uncertain significance
rs772868211	22:40,045,648	C/T	—	likely benign
rs762867080	22:40,045,649	G/A	—	uncertain significance
rs372904212	22:40,045,653	C/T	—	uncertain significance
rs2518145421	22:40,045,662	A/T	—	uncertain significance
rs2518145446	22:40,045,672	C/A	—	likely benign
rs775267956	22:40,045,680	G/A	—	uncertain significance
rs56859827	22:40,045,685	G/A	—	benign
rs755606094	22:40,045,715	G/A	—	uncertain significance
rs59010602	22:40,045,718	G/T	—	likely benign
rs375727237	22:40,045,722	G/A	—	uncertain significance
rs764180954	22:40,045,736	G/A	—	uncertain significance
rs58955204	22:40,045,804	C/T	—	benign
rs373807263	22:40,045,840	C/T	—	likely benign
rs199932036	22:40,045,841	G/C	—	uncertain significance
rs1335580570	22:40,054,151	C/T	—	likely benign

Showing 100 of 258 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.