Canonical Allele Identifier: CA1219577612

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 1556323
• ClinVar RCV Id: RCV002187827
• dbSNP Id: rs1660923412
• gnomAD v4: 1-201058398-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058398T>C , CM000663.2:g.201058398T>C	GRCh38
NC_000001.10:g.201027526T>C , CM000663.1:g.201027526T>C	GRCh37
NC_000001.9:g.199294149T>C	NCBI36
NG_009816.1:g.59169A>G
NG_009816.2:g.59169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3609+10A>G MANE Select	ENSP00000355192.3:n.3609+10A>G
ENST00000679417.1:c.*2772+10A>G	ENSP00000506706.1:n.*2772+10A>G
ENST00000680051.1:n.735+10A>G
ENST00000680059.1:c.*1127+10A>G	ENSP00000504944.1:n.*1127+10A>G
ENST00000681078.1:c.3609+10A>G	ENSP00000506645.1:n.3609+10A>G
ENST00000681190.1:c.3609+10A>G	ENSP00000506428.1:n.3609+10A>G
ENST00000681874.1:c.3549+10A>G	ENSP00000505162.1:n.3549+10A>G
ENST00000362061.3:c.3609+10A>G	ENSP00000355192.3:n.3609+10A>G
ENST00000367338.7:c.3609+10A>G	ENSP00000356307.3:n.3609+10A>G
NM_000069.2:c.3609+10A>G	NP_000060.2:n.3609+10A>G
XM_005245478.2:c.3609+10A>G	XP_005245535.1:n.3609+10A>G
XM_005245478.3:c.3609+10A>G	XP_005245535.1:n.3609+10A>G
NM_000069.3:c.3609+10A>G MANE Select	NP_000060.2:n.3609+10A>G