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: CA91777160

Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs922955322

gnomAD v3: 4-6269450-G-A

gnomAD v4: 4-6269450-G-A

MyVariant Identifiers: chr4:g.6271177G>A (hg19) chr4:g.6269450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269450G>A , CM000666.2:g.6269450G>A	GRCh38
NC_000004.11:g.6271177G>A , CM000666.1:g.6271177G>A	GRCh37
NC_000004.10:g.6322078G>A	NCBI36
NG_011700.1:g.4601G>A

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7811G>A	XP_016864075.1:n.4+7811G>A

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