Canonical Allele Identifier: CA082928
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201052606G>A
GRCh37 chr1:g.201021734G>A
Revel Score:
ENST00000362061 (MANE Select) 0.908
ENST00000367338 0.908
gnomAD v2:
1:201021734 G / A
gnomAD v3:
1:201052606 G / A
gnomAD v4:
chr1-201052606-G-A
Joint Max Group AF 0.00042888 (MID)
Genomes Max Group AF 0.00007911 (NFE)
Exomes Max Group AF 0.00045291 (MID)
ClinVar Allele:
279519
ClinVar RCV:
RCV000337244
RCV001364039
RCV002508209
ClinVar Variation:
294725
dbSNP:
780390034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201052606G>A , CM000663.2:g.201052606G>A GRCh38
NC_000001.10:g.201021734G>A , CM000663.1:g.201021734G>A GRCh37
NC_000001.9:g.199288357G>A NCBI36
NG_009816.1:g.64961C>T
NG_009816.2:g.64961C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3904C>T MANE Select ENSP00000355192.3:p.Arg1302Trp
ENST00000679417.1:c.*3067C>T ENSP00000506706.1:n.*3067C>T
ENST00000680051.1:n.1030C>T
ENST00000680059.1:c.*1422C>T ENSP00000504944.1:n.*1422C>T
ENST00000681078.1:c.3904C>T ENSP00000506645.1:p.Arg1302Trp
ENST00000681190.1:c.*86C>T ENSP00000506428.1:n.*86C>T
ENST00000681874.1:c.3844C>T ENSP00000505162.1:p.Arg1282Trp
ENST00000362061.3:c.3904C>T ENSP00000355192.3:p.Arg1302Trp
ENST00000367338.7:c.3847C>T ENSP00000356307.3:p.Arg1283Trp
NM_000069.2:c.3904C>T NP_000060.2:p.Arg1302Trp
XM_005245478.2:c.3847C>T XP_005245535.1:p.Arg1283Trp
XM_005245478.3:c.3847C>T XP_005245535.1:p.Arg1283Trp
NM_000069.3:c.3904C>T MANE Select NP_000060.2:p.Arg1302Trp
Search 100 bp 5'
Search 100 bp 3'