Canonical Allele Identifier: CA549420837

Gene: WFS1

Linked Data

• dbSNP Id: rs1375261058
• gnomAD v2: 4-6271067-C-T
• gnomAD v3: 4-6269340-C-T
• gnomAD v4: 4-6269340-C-T
• MyVariant Identifiers: chr4:g.6271067C>T (hg19) ; chr4:g.6269340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6269340C>T , CM000666.2:g.6269340C>T	GRCh38
NC_000004.11:g.6271067C>T , CM000666.1:g.6271067C>T	GRCh37
NC_000004.10:g.6321968C>T	NCBI36
NG_011700.1:g.4491C>T

Transcript Alleles

HGVS	Amino-acid change
XM_017008586.1:c.4+7701C>T	XP_016864075.1:n.4+7701C>T