Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA2593287657

Gene: AHR HGNC NCBI

Linked Data

dbSNP Id: rs1199909452

gnomAD v3: 7-17298539-T-A

gnomAD v4: 7-17298539-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17298539T>A , CM000669.2:g.17298539T>A	GRCh38
NC_000007.13:g.17338163T>A , CM000669.1:g.17338163T>A	GRCh37
NC_000007.12:g.17304688T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000642825.1:c.20+1915T>A	ENSP00000495987.1:n.20+1915T>A

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