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: CA15305805

Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs4689388

gnomAD v2: 4-6270056-G-A

gnomAD v3: 4-6268329-G-A

gnomAD v4: 4-6268329-G-A

MyVariant Identifiers: chr4:g.6270056G>A (hg19) chr4:g.6268329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6268329G>A , CM000666.2:g.6268329G>A	GRCh38
NC_000004.11:g.6270056G>A , CM000666.1:g.6270056G>A	GRCh37
NC_000004.10:g.6320957G>A	NCBI36
NG_011700.1:g.3480G>A

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+6690G>A	XP_016864075.1:n.4+6690G>A

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