Canonical Allele Identifier: CA1184937
Gene: OR6N1 HGNC NCBI
OR6K6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158755516T>C
GRCh37 chr1:g.158725306T>C
Revel Score:
ENST00000368144 0.192
gnomAD v2:
1:158725306 T / C
gnomAD v3:
1:158755516 T / C
gnomAD v4:
chr1-158755516-T-C
Joint Max Group AF 0.00035931 (AMR)
Genomes Max Group AF 0.00012872 (AMR)
Exomes Max Group AF 0.00038797 (AMR)
ClinVar Allele:
2336557
ClinVar RCV:
RCV004194760
ClinVar Variation:
2352528
dbSNP:
772913756
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158755516T>C , CM000663.2:g.158755516T>C GRCh38
NC_000001.10:g.158725306T>C , CM000663.1:g.158725306T>C GRCh37
NC_000001.9:g.156991930T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641189.1:n.176-7617A>G (OR6N1)
ENST00000641861.1:c.629T>C (OR6K6) MANE Select ENSP00000493180.1:p.Ile210Thr
ENST00000368144.2:c.701T>C (OR6K6) ENSP00000357126.2:p.Ile234Thr
NM_001005184.1:c.701T>C (OR6K6) NP_001005184.1:p.Ile234Thr
XR_001736980.1:n.841-7617A>G (OR6N1)
NM_001005184.2:c.629T>C (OR6K6) MANE Select NP_001005184.2:p.Ile210Thr
Search 100 bp 5'
Search 100 bp 3'