Canonical Allele Identifier: CA2649760817

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201050962-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201050962C>A , CM000663.2:g.201050962C>A	GRCh38
NC_000001.10:g.201020090C>A , CM000663.1:g.201020090C>A	GRCh37
NC_000001.9:g.199286713C>A	NCBI36
NG_009816.1:g.66605G>T
NG_009816.2:g.66605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.4113+22G>T MANE Select	ENSP00000355192.3:n.4113+22G>T
ENST00000679417.1:c.*3276+22G>T	ENSP00000506706.1:n.*3276+22G>T
ENST00000680051.1:n.1239+22G>T
ENST00000680059.1:c.*1631+22G>T	ENSP00000504944.1:n.*1631+22G>T
ENST00000681078.1:c.4113+22G>T	ENSP00000506645.1:n.4113+22G>T
ENST00000681190.1:c.*295+22G>T	ENSP00000506428.1:n.*295+22G>T
ENST00000681874.1:c.4053+22G>T	ENSP00000505162.1:n.4053+22G>T
ENST00000362061.3:c.4113+22G>T	ENSP00000355192.3:n.4113+22G>T
ENST00000367338.7:c.4056+22G>T	ENSP00000356307.3:n.4056+22G>T
NM_000069.2:c.4113+22G>T	NP_000060.2:n.4113+22G>T
XM_005245478.2:c.4056+22G>T	XP_005245535.1:n.4056+22G>T
XM_005245478.3:c.4056+22G>T	XP_005245535.1:n.4056+22G>T
NM_000069.3:c.4113+22G>T MANE Select	NP_000060.2:n.4113+22G>T