Canonical Allele Identifier: CA1011174808

Gene: CACNA1S

Linked Data

• dbSNP Id: rs560817431
• gnomAD v3: 1-201058659-A-T
• gnomAD v4: 1-201058659-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058659A>T , CM000663.2:g.201058659A>T	GRCh38
NC_000001.10:g.201027787A>T , CM000663.1:g.201027787A>T	GRCh37
NC_000001.9:g.199294410A>T	NCBI36
NG_009816.1:g.58908T>A
NG_009816.2:g.58908T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3526-168T>A MANE Select	ENSP00000355192.3:n.3526-168T>A
ENST00000679417.1:c.*2689-168T>A	ENSP00000506706.1:n.*2689-168T>A
ENST00000680051.1:n.652-168T>A
ENST00000680059.1:c.*1044-168T>A	ENSP00000504944.1:n.*1044-168T>A
ENST00000681078.1:c.3526-168T>A	ENSP00000506645.1:n.3526-168T>A
ENST00000681190.1:c.3526-168T>A	ENSP00000506428.1:n.3526-168T>A
ENST00000681874.1:c.3466-168T>A	ENSP00000505162.1:n.3466-168T>A
ENST00000362061.3:c.3526-168T>A	ENSP00000355192.3:n.3526-168T>A
ENST00000367338.7:c.3526-168T>A	ENSP00000356307.3:n.3526-168T>A
NM_000069.2:c.3526-168T>A	NP_000060.2:n.3526-168T>A
XM_005245478.2:c.3526-168T>A	XP_005245535.1:n.3526-168T>A
XM_005245478.3:c.3526-168T>A	XP_005245535.1:n.3526-168T>A
NM_000069.3:c.3526-168T>A MANE Select	NP_000060.2:n.3526-168T>A