CACNA1C
This page contains an overview of the genetic variation in the CACNA1C gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
CACNA1C gene and transcript details
Gene Name
calcium channel, voltage-dependent, L type, alpha 1C subunit
Gene Links
Ensembl: ENSG00000151067 -
Locus Reference Genomic: LRG_334
Genomic Location
Chromosome 12 : 2,162,729 - 2,800,365 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (6414 bases) | Protein (2138 aa) |
|---|---|---|
 |
ENST00000399655 | ENSP00000382563 |
 |
LRG_334t1 | LRG_334p1 |
 |
NM_000719.6 | |
 |
Summary of CACNA1C in Cardiomyopathies
CACNA1C variants in ExAC
Details of the protein-altering CACNA1C variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 510 | 0.00835 |
| Truncating | 9 | 0.00011 |
| Missense | 412 | 0.00682 |
| Inframe | 5 | 0.00007 |
| Splice Site | 84 | 0.00134 |