Canonical Allele Identifier: CA078688
Gene: CACNA1S HGNC NCBI

Linked Data

ClinVar Variation Id: 402472
dbSNP Id: rs745712829

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201075494C>T , CM000663.2:g.201075494C>T GRCh38
NC_000001.10:g.201044622C>T , CM000663.1:g.201044622C>T GRCh37
NC_000001.9:g.199311245C>T NCBI36
NG_009816.1:g.42073G>A
NG_009816.2:g.42073G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1948+1G>A MANE Select ENSP00000355192.3:n.1948+1G>A
ENST00000679417.1:c.*1111+1G>A ENSP00000506706.1:n.*1111+1G>A
ENST00000680059.1:c.1948+1G>A ENSP00000504944.1:n.1948+1G>A
ENST00000681078.1:c.1948+1G>A ENSP00000506645.1:n.1948+1G>A
ENST00000681190.1:c.1948+1G>A ENSP00000506428.1:n.1948+1G>A
ENST00000681874.1:c.1948+1G>A ENSP00000505162.1:n.1948+1G>A
ENST00000362061.3:c.1948+1G>A ENSP00000355192.3:n.1948+1G>A
ENST00000367338.7:c.1948+1G>A ENSP00000356307.3:n.1948+1G>A
NM_000069.2:c.1948+1G>A NP_000060.2:n.1948+1G>A
XM_005245478.2:c.1948+1G>A XP_005245535.1:n.1948+1G>A
XM_005245478.3:c.1948+1G>A XP_005245535.1:n.1948+1G>A
NM_000069.3:c.1948+1G>A MANE Select NP_000060.2:n.1948+1G>A