Canonical Allele Identifier: CA357204954

Gene: GC

Linked Data

• gnomAD v4: 4-71756859-A-C
• MyVariant Identifiers: chr4:g.72622576A>C (hg19) ; chr4:g.71756859A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756859A>C , CM000666.2:g.71756859A>C	GRCh38
NC_000004.11:g.72622576A>C , CM000666.1:g.72622576A>C	GRCh37
NC_000004.10:g.72841440A>C	NCBI36
NG_012837.2:g.53662T>G
NG_012837.3:g.53662T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.887T>G MANE Select	ENSP00000273951.8:p.Phe296Cys
ENST00000273951.12:c.887T>G	ENSP00000273951.8:p.Phe296Cys
ENST00000503472.5:n.771T>G
ENST00000504199.5:c.944T>G	ENSP00000421725.1:p.Phe315Cys
ENST00000509740.5:c.887T>G	ENSP00000422664.1:p.Phe296Cys
ENST00000513476.5:c.887T>G	ENSP00000426683.1:p.Phe296Cys
NM_000583.3:c.887T>G	NP_000574.2:p.Phe296Cys
NM_001204306.1:c.887T>G	NP_001191235.1:p.Phe296Cys
NM_001204307.1:c.944T>G	NP_001191236.1:p.Phe315Cys
XM_006714177.2:c.887T>G	XP_006714240.1:p.Phe296Cys
XM_006714177.3:c.887T>G	XP_006714240.1:p.Phe296Cys
NM_000583.4:c.887T>G MANE Select	NP_000574.2:p.Phe296Cys