Canonical Allele Identifier: CA276128

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 209137
• ClinVar RCV Id: RCV000191067 ; RCV001376984
• dbSNP Id: rs797045031
• gnomAD v4: 1-201058493-T-C
• MyVariant Identifiers: chr1:g.201027621T>C (hg19) ; chr1:g.201058493T>C (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058493T>C , CM000663.2:g.201058493T>C	GRCh38
NC_000001.10:g.201027621T>C , CM000663.1:g.201027621T>C	GRCh37
NC_000001.9:g.199294244T>C	NCBI36
NG_009816.1:g.59074A>G
NG_009816.2:g.59074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3526-2A>G MANE Select	ENSP00000355192.3:n.3526-2A>G
ENST00000679417.1:c.*2689-2A>G	ENSP00000506706.1:n.*2689-2A>G
ENST00000680051.1:n.652-2A>G
ENST00000680059.1:c.*1044-2A>G	ENSP00000504944.1:n.*1044-2A>G
ENST00000681078.1:c.3526-2A>G	ENSP00000506645.1:n.3526-2A>G
ENST00000681190.1:c.3526-2A>G	ENSP00000506428.1:n.3526-2A>G
ENST00000681874.1:c.3466-2A>G	ENSP00000505162.1:n.3466-2A>G
ENST00000362061.3:c.3526-2A>G	ENSP00000355192.3:n.3526-2A>G
ENST00000367338.7:c.3526-2A>G	ENSP00000356307.3:n.3526-2A>G
NM_000069.2:c.3526-2A>G	NP_000060.2:n.3526-2A>G
XM_005245478.2:c.3526-2A>G	XP_005245535.1:n.3526-2A>G
XM_005245478.3:c.3526-2A>G	XP_005245535.1:n.3526-2A>G
NM_000069.3:c.3526-2A>G MANE Select	NP_000060.2:n.3526-2A>G