Canonical Allele Identifier: CA126129

Gene: GC

Linked Data

• ClinVar Variation Id: 15987
• ClinVar RCV Id: RCV000017357
• dbSNP Id: rs7041
• ExAC: 4:72618334 A / C
• gnomAD v2: 4-72618334-A-C
• gnomAD v3: 4-71752617-A-C
• gnomAD v4: 4-71752617-A-C
• MyVariant Identifiers: chr4:g.72618334A>C (hg19) ; chr4:g.71752617A>C (hg38)
• PubMed: PMID:1352271

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