Canonical Allele Identifier: CA549420836

Gene: WFS1

Linked Data

• dbSNP Id: rs1171361079
• gnomAD v2: 4-6271065-C-T
• gnomAD v3: 4-6269338-C-T
• gnomAD v4: 4-6269338-C-T
• MyVariant Identifiers: chr4:g.6271065C>T (hg19) ; chr4:g.6269338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269338C>T , CM000666.2:g.6269338C>T	GRCh38
NC_000004.11:g.6271065C>T , CM000666.1:g.6271065C>T	GRCh37
NC_000004.10:g.6321966C>T	NCBI36
NG_011700.1:g.4489C>T

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7699C>T	XP_016864075.1:n.4+7699C>T