Canonical Allele Identifier: CA2955560

Gene: GC

Linked Data

• dbSNP Id: rs769432042
• ExAC: 4:72622628 G / A
• gnomAD v2: 4-72622628-G-A
• MyVariant Identifiers: chr4:g.72622628G>A (hg19) ; chr4:g.71756911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756911G>A , CM000666.2:g.71756911G>A	GRCh38
NC_000004.11:g.72622628G>A , CM000666.1:g.72622628G>A	GRCh37
NC_000004.10:g.72841492G>A	NCBI36
NG_012837.2:g.53610C>T
NG_012837.3:g.53610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.835C>T MANE Select	ENSP00000273951.8:p.Pro279Ser
ENST00000273951.12:c.835C>T	ENSP00000273951.8:p.Pro279Ser
ENST00000503472.5:n.719C>T
ENST00000504199.5:c.892C>T	ENSP00000421725.1:p.Pro298Ser
ENST00000509740.5:c.835C>T	ENSP00000422664.1:p.Pro279Ser
ENST00000513476.5:c.835C>T	ENSP00000426683.1:p.Pro279Ser
NM_000583.3:c.835C>T	NP_000574.2:p.Pro279Ser
NM_001204306.1:c.835C>T	NP_001191235.1:p.Pro279Ser
NM_001204307.1:c.892C>T	NP_001191236.1:p.Pro298Ser
XM_006714177.2:c.835C>T	XP_006714240.1:p.Pro279Ser
XM_006714177.3:c.835C>T	XP_006714240.1:p.Pro279Ser
NM_000583.4:c.835C>T MANE Select	NP_000574.2:p.Pro279Ser