Canonical Allele Identifier: CA083652

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 488912
• ClinVar RCV Id: RCV000579186 ; RCV001102103 ; RCV003517228
• dbSNP Id: rs200408018
• ExAC: 1:201081471 T / C
• gnomAD v2: 1-201081471-T-C
• gnomAD v3: 1-201112343-T-C
• gnomAD v4: 1-201112343-T-C
• MyVariant Identifiers: chr1:g.201081471T>C (hg19) ; chr1:g.201112343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201112343T>C , CM000663.2:g.201112343T>C	GRCh38
NC_000001.10:g.201081471T>C , CM000663.1:g.201081471T>C	GRCh37
NC_000001.9:g.199348094T>C	NCBI36
NG_009816.1:g.5224A>G
NG_009816.2:g.5224A>G

Transcript Alleles

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