Canonical Allele Identifier: CA2649760949

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201060533-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060533T>C , CM000663.2:g.201060533T>C	GRCh38
NC_000001.10:g.201029661T>C , CM000663.1:g.201029661T>C	GRCh37
NC_000001.9:g.199296284T>C	NCBI36
NG_009816.1:g.57034A>G
NG_009816.2:g.57034A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3414+125A>G MANE Select	ENSP00000355192.3:n.3414+125A>G
ENST00000679417.1:c.*2577+125A>G	ENSP00000506706.1:n.*2577+125A>G
ENST00000680051.1:n.540+125A>G
ENST00000680059.1:c.*932+125A>G	ENSP00000504944.1:n.*932+125A>G
ENST00000681078.1:c.3414+125A>G	ENSP00000506645.1:n.3414+125A>G
ENST00000681190.1:c.3414+125A>G	ENSP00000506428.1:n.3414+125A>G
ENST00000681874.1:c.3354+125A>G	ENSP00000505162.1:n.3354+125A>G
ENST00000362061.3:c.3414+125A>G	ENSP00000355192.3:n.3414+125A>G
ENST00000367338.7:c.3414+125A>G	ENSP00000356307.3:n.3414+125A>G
NM_000069.2:c.3414+125A>G	NP_000060.2:n.3414+125A>G
XM_005245478.2:c.3414+125A>G	XP_005245535.1:n.3414+125A>G
XM_005245478.3:c.3414+125A>G	XP_005245535.1:n.3414+125A>G
NM_000069.3:c.3414+125A>G MANE Select	NP_000060.2:n.3414+125A>G