Canonical Allele Identifier: CA078545

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 3072206
• ClinVar RCV Id: RCV004012236
• dbSNP Id: rs756599133
• ExAC: 1:201046133 A / C
• gnomAD v2: 1-201046133-A-C
• gnomAD v4: 1-201077005-A-C
• MyVariant Identifiers: chr1:g.201046133A>C (hg19) ; chr1:g.201077005A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077005A>C , CM000663.2:g.201077005A>C	GRCh38
NC_000001.10:g.201046133A>C , CM000663.1:g.201046133A>C	GRCh37
NC_000001.9:g.199312756A>C	NCBI36
NG_009816.1:g.40562T>G
NG_009816.2:g.40562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1742T>G MANE Select	ENSP00000355192.3:p.Phe581Cys
ENST00000679417.1:c.*905T>G	ENSP00000506706.1:n.*905T>G
ENST00000680059.1:c.1742T>G	ENSP00000504944.1:p.Phe581Cys
ENST00000681078.1:c.1742T>G	ENSP00000506645.1:p.Phe581Cys
ENST00000681190.1:c.1742T>G	ENSP00000506428.1:p.Phe581Cys
ENST00000681874.1:c.1742T>G	ENSP00000505162.1:p.Phe581Cys
ENST00000362061.3:c.1742T>G	ENSP00000355192.3:p.Phe581Cys
ENST00000367338.7:c.1742T>G	ENSP00000356307.3:p.Phe581Cys
NM_000069.2:c.1742T>G	NP_000060.2:p.Phe581Cys
XM_005245478.2:c.1742T>G	XP_005245535.1:p.Phe581Cys
XM_005245478.3:c.1742T>G	XP_005245535.1:p.Phe581Cys
NM_000069.3:c.1742T>G MANE Select	NP_000060.2:p.Phe581Cys