Canonical Allele Identifier: CA380494003
Gene: OR8H3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.56123249A>G
GRCh37 chr11:g.55890725A>G
Revel Score:
ENST00000313472 (MANE Select) 0.191
gnomAD v2:
11:55890725 A / G
gnomAD v3:
11:56123249 A / G
gnomAD v4:
chr11-56123249-A-G
Joint Max Group AF 0.0000175 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00000996 (AFR)
ClinVar RCV:
RCV004091712
ClinVar Variation:
2231136
dbSNP:
776377542
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.56123249A>G , CM000673.2:g.56123249A>G GRCh38
NC_000011.9:g.55890725A>G , CM000673.1:g.55890725A>G GRCh37
NC_000011.8:g.55647301A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000313472.3:c.877A>G MANE Select ENSP00000323928.3:p.Arg293Gly
NM_001005201.1:c.877A>G MANE Select NP_001005201.1:p.Arg293Gly
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