Canonical Allele Identifier: CA4172181
Gene: AHR HGNC NCBI

Linked Data

dbSNP Id: rs756932231
gnomAD v2: 7-17379226-C-G
gnomAD v3: 7-17339602-C-G
gnomAD v4: 7-17339602-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.17339602C>G , CM000669.2:g.17339602C>G GRCh38
NC_000007.13:g.17379226C>G , CM000669.1:g.17379226C>G GRCh37
NC_000007.12:g.17345751C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000242057.9:c.1777C>G MANE Select ENSP00000242057.4:p.Pro593Ala
ENST00000637807.1:c.1747C>G ENSP00000490530.1:p.Pro583Ala
ENST00000642825.1:c.1732C>G ENSP00000495987.1:p.Pro578Ala
ENST00000242057.8:c.1777C>G ENSP00000242057.4:p.Pro593Ala
ENST00000463496.1:c.1777C>G ENSP00000436466.1:p.Pro593Ala
NM_001621.4:c.1777C>G NP_001612.1:p.Pro593Ala
NM_001621.5:c.1777C>G MANE Select NP_001612.1:p.Pro593Ala