Canonical Allele Identifier: CA1058893386

Gene: WFS1

Linked Data

• dbSNP Id: rs1731020889
• gnomAD v3: 4-6303036-T-A
• gnomAD v4: 4-6303036-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303036T>A , CM000666.2:g.6303036T>A	GRCh38
NC_000004.11:g.6304763T>A , CM000666.1:g.6304763T>A	GRCh37
NC_000004.10:g.6355664T>A	NCBI36
NG_011700.1:g.38187T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*568T>A	ENSP00000507852.1:n.*568T>A
ENST00000683395.1:c.3218T>A
ENST00000684087.1:c.*568T>A	ENSP00000506978.1:n.*568T>A
ENST00000673991.1:c.*568T>A	ENSP00000501033.1:n.*568T>A
ENST00000226760.5:c.*568T>A MANE Select	ENSP00000226760.1:n.*568T>A
ENST00000507765.1:n.3426T>A
NM_001145853.1:c.*568T>A	NP_001139325.1:n.*568T>A
NM_006005.3:c.*568T>A MANE Select	NP_005996.2:n.*568T>A
XM_017008586.1:c.*568T>A	XP_016864075.1:n.*568T>A
XR_001741566.2:n.1909A>T