CACNA1C

calcium voltage-gated channel subunit alpha1 C

Summary

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

Known Variants2,518 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1106204012:2,091,257C/Tintron variant—
rs414113012:2,097,716T/Cintron variant—
rs1077401812:2,157,925G/A——
rs1106209112:2,162,369A/G—benign
rs88604914812:2,162,496C/T—uncertain significance
rs53158943712:2,162,505T/C—benign
rs11241274012:2,162,548G/A—benign
rs98999468512:2,162,701C/T—likely benign
rs77633180012:2,162,702T/G—likely benign
rs76179052012:2,162,726T/C—likely benign
rs53636169512:2,162,727C/T—uncertain significance
rs93196412212:2,162,729A/C—uncertain significance
rs76137854512:2,162,730T/C—conflicting classifications of pathogenicity
rs254337157412:2,162,731G/C—uncertain significance
rs205298729412:2,162,740G/C—uncertain significance
rs88604915012:2,162,741A/C—uncertain significance
rs155507595812:2,162,742A/G—uncertain significance
rs254337491212:2,162,745C/G—uncertain significance
rs37680651612:2,162,746G/T—likely benign
rs76607549812:2,162,748G/C—likely benign
rs138656451812:2,162,749G/T—likely benign
rs215450266312:2,162,755C/T—likely benign
rs138369736712:2,162,758T/C—likely benign
rs121152953212:2,162,761A/G—likely benign
rs75121271512:2,162,763A/T—likely benign
rs75465699912:2,162,765G/A—uncertain significance
rs77817357012:2,162,770C/T—likely benign
rs215450270612:2,162,778G/A—uncertain significance
rs254338130012:2,162,780A/G—uncertain significance
rs75771701312:2,162,782G/A—uncertain significance
rs205301416412:2,162,783G/A—uncertain significance
rs77939313012:2,162,784C/G—likely benign
rs77561251212:2,162,797C/T—likely benign
rs1106209212:2,163,032G/A—benign
rs476566312:2,178,760G/A——
rs476588612:2,179,890A/Tintron variant—
rs76465432112:2,197,579T/C——
rs379430312:2,198,384T/Gintron variant—
rs476589612:2,224,063C/G—benign
rs229966112:2,224,228C/G—benign
rs11223007712:2,224,243C/T—likely benign
rs75092328912:2,224,372T/C—likely benign
rs119525079712:2,224,376C/A—likely benign
rs208336975512:2,224,380T/G—likely benign
rs208337365612:2,224,384C/T—likely benign
rs78016154012:2,224,387C/T—conflicting classifications of pathogenicity
rs254755691912:2,224,389G/C—uncertain significance
rs74708349512:2,224,390G/A—conflicting classifications of pathogenicity
rs121622912112:2,224,393C/T—uncertain significance
rs208337905012:2,224,394C/T—likely benign
rs126784594012:2,224,399A/G—conflicting classifications of pathogenicity
rs78127568712:2,224,400T/C—likely benign
rs86844310612:2,224,402G/C—uncertain significance
rs76970300112:2,224,405G/T—conflicting classifications of pathogenicity
rs215413681612:2,224,409A/C—likely benign
rs77321134812:2,224,410C/T—uncertain significance
rs20094157912:2,224,411G/A—conflicting classifications of pathogenicity
rs77386918112:2,224,415C/T—likely benign
rs36948345212:2,224,416G/A—conflicting classifications of pathogenicity
rs155519234812:2,224,417C/T—uncertain significance
rs37368700512:2,224,422G/A—conflicting classifications of pathogenicity
rs136791663312:2,224,428A/G—uncertain significance
rs53159885612:2,224,431A/G—conflicting classifications of pathogenicity
rs136789526212:2,224,432A/G—uncertain significance
rs254755994312:2,224,435C/G—uncertain significance
rs53560844312:2,224,438A/G—conflicting classifications of pathogenicity
rs55139669812:2,224,441C/T—conflicting classifications of pathogenicity
rs37634586912:2,224,442G/A—likely benign
rs215413689512:2,224,445A/G—likely benign
rs75502800012:2,224,447C/T—conflicting classifications of pathogenicity
rs78139545012:2,224,448G/A—likely benign
rs3453461312:2,224,449G/A—likely benign
rs254756087612:2,224,452C/A—uncertain significance
rs126132561512:2,224,454G/A—likely benign
rs12191277612:2,224,456C/Tmissense variantpathogenic
rs215413690712:2,224,457C/G—likely benign
rs254756117012:2,224,458C/T—uncertain significance
rs144761562412:2,224,461G/A—uncertain significance
rs145126043112:2,224,462A/T—uncertain significance
rs98180651812:2,224,463G/A—likely benign
rs215413691512:2,224,465A/G—uncertain significance
rs254756188512:2,224,467A/C—uncertain significance
rs215413692612:2,224,469C/T—likely benign
rs105751845612:2,224,470C/G—uncertain significance
rs77018345212:2,224,472C/T—likely benign
rs74912318512:2,224,475C/A—likely benign
rs77083079612:2,224,477C/T—uncertain significance
rs77416512012:2,224,478G/A—likely benign
rs115758670512:2,224,482G/C—uncertain significance
rs208340668512:2,224,484T/C—likely benign
rs138526600612:2,224,488C/A—uncertain significance
rs138335174012:2,224,490G/A—likely benign
rs135234126612:2,224,492C/T—uncertain significance
rs56331560612:2,224,493G/A—likely benign
rs78620576512:2,224,494T/C—uncertain significance
rs77501937212:2,224,501C/T—uncertain significance
rs76029784612:2,224,502G/A—likely benign
rs123809869912:2,224,503G/A—uncertain significance
rs215413700412:2,224,504C/A—uncertain significance
rs76376040212:2,224,508C/G—uncertain significance

Showing 100 of 2,518 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.