Canonical Allele Identifier: CA730085512

Gene: CACNA1S

Linked Data

• dbSNP Id: rs551276164
• gnomAD v3: 1-201076673-T-C
• gnomAD v4: 1-201076673-T-C
• MyVariant Identifiers: chr1:g.201045801T>C (hg19) ; chr1:g.201076673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076673T>C , CM000663.2:g.201076673T>C	GRCh38
NC_000001.10:g.201045801T>C , CM000663.1:g.201045801T>C	GRCh37
NC_000001.9:g.199312424T>C	NCBI36
NG_009816.1:g.40894A>G
NG_009816.2:g.40894A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1827+247A>G MANE Select	ENSP00000355192.3:n.1827+247A>G
ENST00000679417.1:c.*990+247A>G	ENSP00000506706.1:n.*990+247A>G
ENST00000680059.1:c.1827+247A>G	ENSP00000504944.1:n.1827+247A>G
ENST00000681078.1:c.1827+247A>G	ENSP00000506645.1:n.1827+247A>G
ENST00000681190.1:c.1827+247A>G	ENSP00000506428.1:n.1827+247A>G
ENST00000681874.1:c.1827+247A>G	ENSP00000505162.1:n.1827+247A>G
ENST00000362061.3:c.1827+247A>G	ENSP00000355192.3:n.1827+247A>G
ENST00000367338.7:c.1827+247A>G	ENSP00000356307.3:n.1827+247A>G
NM_000069.2:c.1827+247A>G	NP_000060.2:n.1827+247A>G
XM_005245478.2:c.1827+247A>G	XP_005245535.1:n.1827+247A>G
XM_005245478.3:c.1827+247A>G	XP_005245535.1:n.1827+247A>G
NM_000069.3:c.1827+247A>G MANE Select	NP_000060.2:n.1827+247A>G