Canonical Allele Identifier: CA1219584677
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201076743C= , CM000663.2:g.201076743C= GRCh38
NC_000001.10:g.201045871C= , CM000663.1:g.201045871C= GRCh37
NC_000001.9:g.199312494C= NCBI36
NG_009816.1:g.40824G=
NG_009816.2:g.40824G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1827+177G= MANE Select ENSP00000355192.3:n.1827+177G=
ENST00000679417.1:c.*990+177G= ENSP00000506706.1:n.*990+177G=
ENST00000680059.1:c.1827+177G= ENSP00000504944.1:n.1827+177G=
ENST00000681078.1:c.1827+177G= ENSP00000506645.1:n.1827+177G=
ENST00000681190.1:c.1827+177G= ENSP00000506428.1:n.1827+177G=
ENST00000681874.1:c.1827+177G= ENSP00000505162.1:n.1827+177G=
ENST00000362061.3:c.1827+177G= ENSP00000355192.3:n.1827+177G=
ENST00000367338.7:c.1827+177G= ENSP00000356307.3:n.1827+177G=
NM_000069.2:c.1827+177G= NP_000060.2:n.1827+177G=
XM_005245478.2:c.1827+177G= XP_005245535.1:n.1827+177G=
XM_005245478.3:c.1827+177G= XP_005245535.1:n.1827+177G=
NM_000069.3:c.1827+177G= MANE Select NP_000060.2:n.1827+177G=