Canonical Allele Identifier: CA357199250

Gene: GC

Linked Data

• gnomAD v4: 4-71741851-T-G
• MyVariant Identifiers: chr4:g.72607568T>G (hg19) ; chr4:g.71741851T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71741851T>G , CM000666.2:g.71741851T>G	GRCh38
NC_000004.11:g.72607568T>G , CM000666.1:g.72607568T>G	GRCh37
NC_000004.10:g.72826432T>G	NCBI36
NG_012837.2:g.68670A>C
NG_012837.3:g.68670A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*45A>C MANE Select	ENSP00000273951.8:n.*45A>C
ENST00000273951.12:c.*45A>C	ENSP00000273951.8:n.*45A>C
ENST00000503364.5:n.143A>C
ENST00000503472.5:n.1354A>C
ENST00000504199.5:c.*45A>C	ENSP00000421725.1:n.*45A>C
ENST00000509740.5:c.*293A>C	ENSP00000422664.1:n.*293A>C
ENST00000513476.5:c.1415A>C	ENSP00000426683.1:p.Gln472Pro
NM_000583.3:c.*45A>C	NP_000574.2:n.*45A>C
NM_001204306.1:c.*45A>C	NP_001191235.1:n.*45A>C
NM_001204307.1:c.*45A>C	NP_001191236.1:n.*45A>C
XM_006714177.2:c.*59A>C	XP_006714240.1:n.*59A>C
XM_006714177.3:c.*59A>C	XP_006714240.1:n.*59A>C
NM_000583.4:c.*45A>C MANE Select	NP_000574.2:n.*45A>C