Canonical Allele Identifier: CA079088
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201066962C>G
GRCh37 chr1:g.201036090C>G
Revel Score:
ENST00000362061 (MANE Select) 0.876
ENST00000367338 0.876
gnomAD v2:
1:201036090 C / G
gnomAD v3:
1:201066962 C / G
gnomAD v4:
chr1-201066962-C-G
Joint Max Group AF 0.00021995 (AFR)
Genomes Max Group AF 0.00020402 (AFR)
Exomes Max Group AF 0.00016126 (AFR)
ClinVar Allele:
364726
ClinVar RCV:
RCV000425186
RCV001861555
RCV004000425
ClinVar Variation:
385304
dbSNP:
369192794
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201066962C>G , CM000663.2:g.201066962C>G GRCh38
NC_000001.10:g.201036090C>G , CM000663.1:g.201036090C>G GRCh37
NC_000001.9:g.199302713C>G NCBI36
NG_009816.1:g.50605G>C
NG_009816.2:g.50605G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.2582G>C MANE Select ENSP00000355192.3:p.Gly861Ala
ENST00000679417.1:c.*1745G>C ENSP00000506706.1:n.*1745G>C
ENST00000680059.1:c.*100G>C ENSP00000504944.1:n.*100G>C
ENST00000681078.1:c.2582G>C ENSP00000506645.1:p.Gly861Ala
ENST00000681190.1:c.2582G>C ENSP00000506428.1:p.Gly861Ala
ENST00000681874.1:c.2522G>C ENSP00000505162.1:p.Gly841Ala
ENST00000362061.3:c.2582G>C ENSP00000355192.3:p.Gly861Ala
ENST00000367338.7:c.2582G>C ENSP00000356307.3:p.Gly861Ala
NM_000069.2:c.2582G>C NP_000060.2:p.Gly861Ala
XM_005245478.2:c.2582G>C XP_005245535.1:p.Gly861Ala
XM_005245478.3:c.2582G>C XP_005245535.1:p.Gly861Ala
NM_000069.3:c.2582G>C MANE Select NP_000060.2:p.Gly861Ala
Search 100 bp 5'
Search 100 bp 3'