Canonical Allele Identifier: CA380722254
Gene: OR9Q2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.58191137T>C
GRCh37 chr11:g.57958609T>C
Revel Score:
ENST00000311591 0.094
gnomAD v4:
chr11-58191137-T-C
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV004094238
ClinVar Variation:
2233244
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.58191137T>C , CM000673.2:g.58191137T>C GRCh38
NC_000011.9:g.57958609T>C , CM000673.1:g.57958609T>C GRCh37
NC_000011.8:g.57715185T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641291.1:c.647T>C MANE Select ENSP00000492924.1:p.Val216Ala
ENST00000311591.3:c.647T>C ENSP00000308714.3:p.Val216Ala
NM_001005283.2:c.647T>C NP_001005283.1:p.Val216Ala
NM_001005283.3:c.647T>C MANE Select NP_001005283.1:p.Val216Ala
Search 100 bp 5'
Search 100 bp 3'