Canonical Allele Identifier: CA114035
Gene: GRXCR1 HGNC NCBI
COSMIC:
COSM366462
MyVariant.info:
GRCh38 chr4:g.42962919C>T
GRCh37 chr4:g.42964936C>T
Revel Score:
ENST00000399770 (MANE Select) 0.524
gnomAD v2:
4:42964936 C / T
gnomAD v3:
4:42962919 C / T
gnomAD v4:
chr4-42962919-C-T
Joint Max Group AF 0.00025564 (SAS)
Genomes Max Group AF 0.00016902 (SAS)
Exomes Max Group AF 0.00024029 (SAS)
ClinVar RCV:
RCV000000219
RCV002512596
ClinVar Variation:
196
dbSNP:
267606856
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.42962919C>T , CM000666.2:g.42962919C>T GRCh38
NC_000004.11:g.42964936C>T , CM000666.1:g.42964936C>T GRCh37
NC_000004.10:g.42659693C>T NCBI36
NG_027718.1:g.74654C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.412C>T MANE Select ENSP00000382670.2:p.Arg138Cys
ENST00000399770.2:c.412C>T ENSP00000382670.2:p.Arg138Cys
NM_001080476.2:c.412C>T NP_001073945.1:p.Arg138Cys
XM_011513691.1:c.49C>T XP_011511993.1:p.Arg17Cys
NM_001080476.3:c.412C>T MANE Select NP_001073945.1:p.Arg138Cys
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