Canonical Allele Identifier: CA4172201
Gene: AHR HGNC NCBI

Linked Data

ClinVar Variation Id: 939860
ClinVar RCV Id: RCV001209324
dbSNP Id: rs749896378
gnomAD v2: 7-17379343-G-T
gnomAD v3: 7-17339719-G-T
gnomAD v4: 7-17339719-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17339719G>T , CM000669.2:g.17339719G>T GRCh38
NC_000007.13:g.17379343G>T , CM000669.1:g.17379343G>T GRCh37
NC_000007.12:g.17345868G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000242057.9:c.1894G>T MANE Select ENSP00000242057.4:p.Val632Leu
ENST00000637807.1:c.1864G>T ENSP00000490530.1:p.Val622Leu
ENST00000642825.1:c.1849G>T ENSP00000495987.1:p.Val617Leu
ENST00000242057.8:c.1894G>T ENSP00000242057.4:p.Val632Leu
ENST00000463496.1:c.1894G>T ENSP00000436466.1:p.Val632Leu
NM_001621.4:c.1894G>T NP_001612.1:p.Val632Leu
NM_001621.5:c.1894G>T MANE Select NP_001612.1:p.Val632Leu