Canonical Allele Identifier: CA380511946
Gene: OR8J1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.56360995T>C
GRCh37 chr11:g.56128471T>C
Revel Score:
ENST00000303039 0.117
gnomAD v2:
11:56128471 T / C
gnomAD v3:
11:56360995 T / C
gnomAD v4:
chr11-56360995-T-C
Joint Max Group AF 0.0000203 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
ClinVar RCV:
RCV004179163
ClinVar Variation:
2332890
dbSNP:
1186602559
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.56360995T>C , CM000673.2:g.56360995T>C GRCh38
NC_000011.9:g.56128471T>C , CM000673.1:g.56128471T>C GRCh37
NC_000011.8:g.55885047T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000533152.3:c.749T>C MANE Select ENSP00000477259.3:p.Ile250Thr
ENST00000641406.1:n.738T>C
ENST00000303039.3:c.749T>C ENSP00000304060.3:p.Ile250Thr
NM_001005205.2:c.749T>C NP_001005205.2:p.Ile250Thr
NM_001005205.3:c.749T>C MANE Select NP_001005205.2:p.Ile250Thr
Search 100 bp 5'
Search 100 bp 3'