Canonical Allele Identifier: CA2649762758

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201065785-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201065785G>C , CM000663.2:g.201065785G>C	GRCh38
NC_000001.10:g.201034913G>C , CM000663.1:g.201034913G>C	GRCh37
NC_000001.9:g.199301536G>C	NCBI36
NG_009816.1:g.51782C>G
NG_009816.2:g.51782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.2853+53C>G MANE Select	ENSP00000355192.3:n.2853+53C>G
ENST00000679417.1:c.*2016+53C>G	ENSP00000506706.1:n.*2016+53C>G
ENST00000680059.1:c.*371+53C>G	ENSP00000504944.1:n.*371+53C>G
ENST00000681078.1:c.2853+53C>G	ENSP00000506645.1:n.2853+53C>G
ENST00000681190.1:c.2853+53C>G	ENSP00000506428.1:n.2853+53C>G
ENST00000681874.1:c.2793+53C>G	ENSP00000505162.1:n.2793+53C>G
ENST00000362061.3:c.2853+53C>G	ENSP00000355192.3:n.2853+53C>G
ENST00000367338.7:c.2853+53C>G	ENSP00000356307.3:n.2853+53C>G
NM_000069.2:c.2853+53C>G	NP_000060.2:n.2853+53C>G
XM_005245478.2:c.2853+53C>G	XP_005245535.1:n.2853+53C>G
XM_005245478.3:c.2853+53C>G	XP_005245535.1:n.2853+53C>G
NM_000069.3:c.2853+53C>G MANE Select	NP_000060.2:n.2853+53C>G