Canonical Allele Identifier: CA1184952
Gene: OR6N1 HGNC NCBI
OR6K6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158755570T>G
GRCh37 chr1:g.158725360T>G
Revel Score:
ENST00000368144 0.263
gnomAD v2:
1:158725360 T / G
gnomAD v3:
1:158755570 T / G
gnomAD v4:
chr1-158755570-T-G
Joint Max Group AF 0.00003069 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003085 (NFE)
ClinVar Allele:
2209261
ClinVar RCV:
RCV004093447
ClinVar Variation:
2228430
dbSNP:
747657169
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158755570T>G , CM000663.2:g.158755570T>G GRCh38
NC_000001.10:g.158725360T>G , CM000663.1:g.158725360T>G GRCh37
NC_000001.9:g.156991984T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641189.1:n.176-7671A>C (OR6N1)
ENST00000641861.1:c.683T>G (OR6K6) MANE Select ENSP00000493180.1:p.Ile228Ser
ENST00000368144.2:c.755T>G (OR6K6) ENSP00000357126.2:p.Ile252Ser
NM_001005184.1:c.755T>G (OR6K6) NP_001005184.1:p.Ile252Ser
XR_001736980.1:n.841-7671A>C (OR6N1)
NM_001005184.2:c.683T>G (OR6K6) MANE Select NP_001005184.2:p.Ile228Ser
Search 100 bp 5'
Search 100 bp 3'