Canonical Allele Identifier: CA079205
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201066316C>T
GRCh37 chr1:g.201035444C>T
gnomAD v2:
1:201035444 C / T
gnomAD v3:
1:201066316 C / T
gnomAD v4:
chr1-201066316-C-T
Joint Max Group AF 0.0000511 (NFE)
Genomes Max Group AF 0.00010181 (NFE)
Exomes Max Group AF 0.00004438 (NFE)
ClinVar RCV:
RCV001242982
RCV001718903
ClinVar Variation:
510524
dbSNP:
140924492
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201066316C>T , CM000663.2:g.201066316C>T GRCh38
NC_000001.10:g.201035444C>T , CM000663.1:g.201035444C>T GRCh37
NC_000001.9:g.199302067C>T NCBI36
NG_009816.1:g.51251G>A
NG_009816.2:g.51251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.2658G>A MANE Select ENSP00000355192.3:p.Glu886=
ENST00000679417.1:c.*1821G>A ENSP00000506706.1:n.*1821G>A
ENST00000680059.1:c.*176G>A ENSP00000504944.1:n.*176G>A
ENST00000681078.1:c.2658G>A ENSP00000506645.1:p.Glu886=
ENST00000681190.1:c.2658G>A ENSP00000506428.1:p.Glu886=
ENST00000681874.1:c.2598G>A ENSP00000505162.1:p.Glu866=
ENST00000362061.3:c.2658G>A ENSP00000355192.3:p.Glu886=
ENST00000367338.7:c.2658G>A ENSP00000356307.3:p.Glu886=
NM_000069.2:c.2658G>A NP_000060.2:p.Glu886=
XM_005245478.2:c.2658G>A XP_005245535.1:p.Glu886=
XM_005245478.3:c.2658G>A XP_005245535.1:p.Glu886=
NM_000069.3:c.2658G>A MANE Select NP_000060.2:p.Glu886=
Search 100 bp 5'
Search 100 bp 3'