Canonical Allele Identifier: CA126129
Gene: GC HGNC NCBI
COSMIC:
COSM149688 (not active)
COSM4381394 (not active)
MyVariant.info:
GRCh38 chr4:g.71752617A>C
GRCh37 chr4:g.72618334A>C
Revel Score:
ENST00000273951 (MANE Select) 0.037
ENST00000504199 0.037
ENST00000513476 0.037
gnomAD v2:
4:72618334 A / C
gnomAD v3:
4:71752617 A / C
gnomAD v4:
chr4-71752617-A-C
Joint Max Group AF 0.5718127 (MID)
Genomes Max Group AF 0.55980551 (NFE)
Exomes Max Group AF 0.57121216 (MID)
ClinVar Allele:
31026
ClinVar RCV:
RCV000017357
RCV003992157
ClinVar Variation:
15987
dbSNP:
7041
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71752617A>C , CM000666.2:g.71752617A>C GRCh38
NC_000004.11:g.72618334A>C , CM000666.1:g.72618334A>C GRCh37
NC_000004.10:g.72837198A>C NCBI36
NG_012837.2:g.57904T>G
NG_012837.3:g.57904T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.1296T>G MANE Select ENSP00000273951.8:p.Asp432Glu
ENST00000273951.12:c.1296T>G ENSP00000273951.8:p.Asp432Glu
ENST00000503364.5:n.68+1794T>G
ENST00000503472.5:n.1180T>G
ENST00000504199.5:c.1353T>G ENSP00000421725.1:p.Asp451Glu
ENST00000509740.5:c.*119T>G ENSP00000422664.1:n.*119T>G
ENST00000513476.5:c.1296T>G ENSP00000426683.1:p.Asp432Glu
NM_000583.3:c.1296T>G NP_000574.2:p.Asp432Glu
NM_001204306.1:c.1296T>G NP_001191235.1:p.Asp432Glu
NM_001204307.1:c.1353T>G NP_001191236.1:p.Asp451Glu
XM_006714177.2:c.1262+1794T>G XP_006714240.1:n.1262+1794T>G
XM_006714177.3:c.1262+1794T>G XP_006714240.1:n.1262+1794T>G
NM_000583.4:c.1296T>G MANE Select NP_000574.2:p.Asp432Glu
Search 100 bp 5'
Search 100 bp 3'