Canonical Allele Identifier: CA11634583

Gene: WFS1

Linked Data

• dbSNP Id: rs13127445
• gnomAD v2: 4-6271150-C-G
• gnomAD v3: 4-6269423-C-G
• gnomAD v4: 4-6269423-C-G
• MyVariant Identifiers: chr4:g.6271150C>G (hg19) ; chr4:g.6269423C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269423C>G , CM000666.2:g.6269423C>G	GRCh38
NC_000004.11:g.6271150C>G , CM000666.1:g.6271150C>G	GRCh37
NC_000004.10:g.6322051C>G	NCBI36
NG_011700.1:g.4574C>G

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7784C>G	XP_016864075.1:n.4+7784C>G