Canonical Allele Identifier: CA549420835

Gene: WFS1

Linked Data

• dbSNP Id: rs1176129436
• gnomAD v2: 4-6271050-A-C
• gnomAD v3: 4-6269323-A-C
• gnomAD v4: 4-6269323-A-C
• MyVariant Identifiers: chr4:g.6271050A>C (hg19) ; chr4:g.6269323A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269323A>C , CM000666.2:g.6269323A>C	GRCh38
NC_000004.11:g.6271050A>C , CM000666.1:g.6271050A>C	GRCh37
NC_000004.10:g.6321951A>C	NCBI36
NG_011700.1:g.4474A>C

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7684A>C	XP_016864075.1:n.4+7684A>C