Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1067052361

Gene:

Linked Data

dbSNP Id: rs7676999

gnomAD v3: 4-116012923-C-G

gnomAD v4: 4-116012923-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.116012923C>G , CM000666.2:g.116012923C>G	GRCh38
NC_000004.11:g.116934079C>G , CM000666.1:g.116934079C>G	GRCh37
NC_000004.10:g.117153528C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000508414.5:n.337-90788G>C

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