Canonical Allele Identifier: CA2904425
Gene: GRXCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428969
ClinVar RCV Id: RCV003123210
dbSNP Id: rs577521620
ExAC: 4:42965026 G / A
gnomAD v2: 4-42965026-G-A
gnomAD v3: 4-42963009-G-A
gnomAD v4: 4-42963009-G-A
COSMIC: COSM1055539
MyVariant Identifiers: chr4:g.42965026G>A (hg19) chr4:g.42963009G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42963009G>A , CM000666.2:g.42963009G>A GRCh38
NC_000004.11:g.42965026G>A , CM000666.1:g.42965026G>A GRCh37
NC_000004.10:g.42659783G>A NCBI36
NG_027718.1:g.74744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.502G>A MANE Select ENSP00000382670.2:p.Val168Ile
ENST00000399770.2:c.502G>A ENSP00000382670.2:p.Val168Ile
NM_001080476.2:c.502G>A NP_001073945.1:p.Val168Ile
XM_011513691.1:c.139G>A XP_011511993.1:p.Val47Ile
NM_001080476.3:c.502G>A MANE Select NP_001073945.1:p.Val168Ile
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