Canonical Allele Identifier: CA114031
Gene: GRXCR1 HGNC NCBI
ClinVar RCV:
RCV000000216
RCV002512595
ClinVar Variation:
193
dbSNP:
606231120
gnomAD v2:
4:43022362 C / A
gnomAD v3:
4:43020345 C / A
gnomAD v4:
chr4-43020345-C-A
Joint Max Group AF 0.00002117 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.0000187 (NFE)
MyVariant.info:
GRCh38 chr4:g.43020345C>A
GRCh37 chr4:g.43022362C>A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.43020345C>A , CM000666.2:g.43020345C>A GRCh38
NC_000004.11:g.43022362C>A , CM000666.1:g.43022362C>A GRCh37
NC_000004.10:g.42717119C>A NCBI36
NG_027718.1:g.132080C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399770.3:c.628-9C>A MANE Select ENSP00000382670.2:n.628-9C>A
ENST00000399770.2:c.628-9C>A ENSP00000382670.2:n.628-9C>A
NM_001080476.2:c.628-9C>A NP_001073945.1:n.628-9C>A
XM_011513691.1:c.265-9C>A XP_011511993.1:n.265-9C>A
NM_001080476.3:c.628-9C>A MANE Select NP_001073945.1:n.628-9C>A
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