Canonical Allele Identifier: CA357204785

Gene: GC

Linked Data

• dbSNP Id: rs375201505
• gnomAD v2: 4-72622499-C-G
• gnomAD v3: 4-71756782-C-G
• gnomAD v4: 4-71756782-C-G
• COSMIC: COSM3661185 ; COSM3661186
• MyVariant Identifiers: chr4:g.72622499C>G (hg19) ; chr4:g.71756782C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756782C>G , CM000666.2:g.71756782C>G	GRCh38
NC_000004.11:g.72622499C>G , CM000666.1:g.72622499C>G	GRCh37
NC_000004.10:g.72841363C>G	NCBI36
NG_012837.2:g.53739G>C
NG_012837.3:g.53739G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.964G>C MANE Select	ENSP00000273951.8:p.Glu322Gln
ENST00000273951.12:c.964G>C	ENSP00000273951.8:p.Glu322Gln
ENST00000503472.5:n.848G>C
ENST00000504199.5:c.1021G>C	ENSP00000421725.1:p.Glu341Gln
ENST00000509740.5:c.964G>C	ENSP00000422664.1:p.Glu322Gln
ENST00000513476.5:c.964G>C	ENSP00000426683.1:p.Glu322Gln
NM_000583.3:c.964G>C	NP_000574.2:p.Glu322Gln
NM_001204306.1:c.964G>C	NP_001191235.1:p.Glu322Gln
NM_001204307.1:c.1021G>C	NP_001191236.1:p.Glu341Gln
XM_006714177.2:c.964G>C	XP_006714240.1:p.Glu322Gln
XM_006714177.3:c.964G>C	XP_006714240.1:p.Glu322Gln
NM_000583.4:c.964G>C MANE Select	NP_000574.2:p.Glu322Gln