Canonical Allele Identifier: CA4172163
Gene: AHR HGNC NCBI
COSMIC:
COSM4984853 (not active)
MyVariant.info:
GRCh38 chr7:g.17339486G>A
GRCh37 chr7:g.17379110G>A
Revel Score:
ENST00000242057 (MANE Select) 0.040
gnomAD v2:
7:17379110 G / A
gnomAD v3:
7:17339486 G / A
gnomAD v4:
chr7-17339486-G-A
Joint Max Group AF 0.45184834 (AFR)
Genomes Max Group AF 0.4468545 (AFR)
Exomes Max Group AF 0.4543009 (AFR)
ClinVar RCV:
RCV001518339
ClinVar Variation:
1168239
dbSNP:
2066853
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17339486G>A , CM000669.2:g.17339486G>A GRCh38
NC_000007.13:g.17379110G>A , CM000669.1:g.17379110G>A GRCh37
NC_000007.12:g.17345635G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000242057.9:c.1661G>A MANE Select ENSP00000242057.4:p.Arg554Lys
ENST00000637807.1:c.1631G>A ENSP00000490530.1:p.Arg544Lys
ENST00000642825.1:c.1616G>A ENSP00000495987.1:p.Arg539Lys
ENST00000242057.8:c.1661G>A ENSP00000242057.4:p.Arg554Lys
ENST00000463496.1:c.1661G>A ENSP00000436466.1:p.Arg554Lys
ENST00000492120.1:n.643G>A
NM_001621.4:c.1661G>A NP_001612.1:p.Arg554Lys
NM_001621.5:c.1661G>A MANE Select NP_001612.1:p.Arg554Lys
Search 100 bp 5'
Search 100 bp 3'