Canonical Allele Identifier: CA648122106

Gene: WFS1

Linked Data

• COSMIC: COSN26618587

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303076A>T , CM000666.2:g.6303076A>T	GRCh38
NC_000004.11:g.6304803A>T , CM000666.1:g.6304803A>T	GRCh37
NC_000004.10:g.6355704A>T	NCBI36
NG_011700.1:g.38227A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*608A>T	ENSP00000507852.1:n.*608A>T
ENST00000683395.1:c.3258A>T
ENST00000684087.1:c.*608A>T	ENSP00000506978.1:n.*608A>T
ENST00000673991.1:c.*608A>T	ENSP00000501033.1:n.*608A>T
ENST00000226760.5:c.*608A>T MANE Select	ENSP00000226760.1:n.*608A>T
ENST00000507765.1:n.3466A>T
NM_001145853.1:c.*608A>T	NP_001139325.1:n.*608A>T
NM_006005.3:c.*608A>T MANE Select	NP_005996.2:n.*608A>T
XM_017008586.1:c.*608A>T	XP_016864075.1:n.*608A>T
XR_001741566.2:n.1869T>A