Canonical Allele Identifier: CA2955523

Gene: GC

Linked Data

• dbSNP Id: rs371054565
• ExAC: 4:72622463 C / G
• gnomAD v2: 4-72622463-C-G
• gnomAD v3: 4-71756746-C-G
• gnomAD v4: 4-71756746-C-G
• MyVariant Identifiers: chr4:g.72622463C>G (hg19) ; chr4:g.71756746C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756746C>G , CM000666.2:g.71756746C>G	GRCh38
NC_000004.11:g.72622463C>G , CM000666.1:g.72622463C>G	GRCh37
NC_000004.10:g.72841327C>G	NCBI36
NG_012837.2:g.53775G>C
NG_012837.3:g.53775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.1000G>C MANE Select	ENSP00000273951.8:p.Val334Leu
ENST00000273951.12:c.1000G>C	ENSP00000273951.8:p.Val334Leu
ENST00000503472.5:n.884G>C
ENST00000504199.5:c.1057G>C	ENSP00000421725.1:p.Val353Leu
ENST00000509740.5:c.1000G>C	ENSP00000422664.1:p.Val334Leu
ENST00000513476.5:c.1000G>C	ENSP00000426683.1:p.Val334Leu
NM_000583.3:c.1000G>C	NP_000574.2:p.Val334Leu
NM_001204306.1:c.1000G>C	NP_001191235.1:p.Val334Leu
NM_001204307.1:c.1057G>C	NP_001191236.1:p.Val353Leu
XM_006714177.2:c.1000G>C	XP_006714240.1:p.Val334Leu
XM_006714177.3:c.1000G>C	XP_006714240.1:p.Val334Leu
NM_000583.4:c.1000G>C MANE Select	NP_000574.2:p.Val334Leu