Canonical Allele Identifier: CA4172221

Gene: AHR

Linked Data

• ClinVar Variation Id: 1015449
• ClinVar RCV Id: RCV001314311 ; RCV004034310
• dbSNP Id: rs753313211
• ExAC: 7:17379469 G / A
• gnomAD v2: 7-17379469-G-A
• gnomAD v3: 7-17339845-G-A
• gnomAD v4: 7-17339845-G-A
• MyVariant Identifiers: chr7:g.17379469G>A (hg19) ; chr7:g.17339845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17339845G>A , CM000669.2:g.17339845G>A	GRCh38
NC_000007.13:g.17379469G>A , CM000669.1:g.17379469G>A	GRCh37
NC_000007.12:g.17345994G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242057.9:c.2020G>A MANE Select	ENSP00000242057.4:p.Val674Ile
ENST00000637807.1:c.1990G>A	ENSP00000490530.1:p.Val664Ile
ENST00000642825.1:c.1975G>A	ENSP00000495987.1:p.Val659Ile
ENST00000242057.8:c.2020G>A	ENSP00000242057.4:p.Val674Ile
ENST00000463496.1:c.2020G>A	ENSP00000436466.1:p.Val674Ile
NM_001621.4:c.2020G>A	NP_001612.1:p.Val674Ile
NM_001621.5:c.2020G>A MANE Select	NP_001612.1:p.Val674Ile