Canonical Allele Identifier: CA2649766595

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201077257-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077257A>C , CM000663.2:g.201077257A>C	GRCh38
NC_000001.10:g.201046385A>C , CM000663.1:g.201046385A>C	GRCh37
NC_000001.9:g.199313008A>C	NCBI36
NG_009816.1:g.40310T>G
NG_009816.2:g.40310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1620-130T>G MANE Select	ENSP00000355192.3:n.1620-130T>G
ENST00000679417.1:c.*783-130T>G	ENSP00000506706.1:n.*783-130T>G
ENST00000680059.1:c.1620-130T>G	ENSP00000504944.1:n.1620-130T>G
ENST00000681078.1:c.1620-130T>G	ENSP00000506645.1:n.1620-130T>G
ENST00000681190.1:c.1620-130T>G	ENSP00000506428.1:n.1620-130T>G
ENST00000681874.1:c.1620-130T>G	ENSP00000505162.1:n.1620-130T>G
ENST00000362061.3:c.1620-130T>G	ENSP00000355192.3:n.1620-130T>G
ENST00000367338.7:c.1620-130T>G	ENSP00000356307.3:n.1620-130T>G
NM_000069.2:c.1620-130T>G	NP_000060.2:n.1620-130T>G
XM_005245478.2:c.1620-130T>G	XP_005245535.1:n.1620-130T>G
XM_005245478.3:c.1620-130T>G	XP_005245535.1:n.1620-130T>G
NM_000069.3:c.1620-130T>G MANE Select	NP_000060.2:n.1620-130T>G