Canonical Allele Identifier: CA2904424

Gene: GRXCR1

Linked Data

• ClinVar Variation Id: 2242143
• ClinVar RCV Id: RCV002724375
• dbSNP Id: rs753832546
• ExAC: 4:42965024 G / A
• gnomAD v2: 4-42965024-G-A
• gnomAD v3: 4-42963007-G-A
• gnomAD v4: 4-42963007-G-A
• COSMIC: COSM733393
• MyVariant Identifiers: chr4:g.42965024G>A (hg19) ; chr4:g.42963007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.42963007G>A , CM000666.2:g.42963007G>A	GRCh38
NC_000004.11:g.42965024G>A , CM000666.1:g.42965024G>A	GRCh37
NC_000004.10:g.42659781G>A	NCBI36
NG_027718.1:g.74742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399770.3:c.500G>A MANE Select	ENSP00000382670.2:p.Arg167His
ENST00000399770.2:c.500G>A	ENSP00000382670.2:p.Arg167His
NM_001080476.2:c.500G>A	NP_001073945.1:p.Arg167His
XM_011513691.1:c.137G>A	XP_011511993.1:p.Arg46His
NM_001080476.3:c.500G>A MANE Select	NP_001073945.1:p.Arg167His