Canonical Allele Identifier: CA2839408

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301375C>T , CM000666.2:g.6301375C>T	GRCh38
NC_000004.11:g.6303102C>T , CM000666.1:g.6303102C>T	GRCh37
NC_000004.10:g.6354003C>T	NCBI36
NG_011700.1:g.36526C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1580C>T MANE Select	NP_005996.2:p.Thr527Ile
ENST00000226760.5:c.1580C>T MANE Select	ENSP00000226760.1:p.Thr527Ile
NM_001145853.1:c.1580C>T	NP_001139325.1:p.Thr527Ile
ENST00000503569.5:c.1580C>T	ENSP00000423337.1:p.Thr527Ile
ENST00000506362.2:c.1331C>T	ENSP00000424103.2:p.Thr444Ile
ENST00000507765.1:n.1765C>T
ENST00000673642.1:c.1239C>T	ENSP00000501242.1:p.His413=
ENST00000673991.1:c.1616C>T	ENSP00000501033.1:p.Thr539Ile
ENST00000682275.1:c.1616C>T	ENSP00000507852.1:p.Thr539Ile
ENST00000683395.1:c.1557C>T
ENST00000684087.1:c.1580C>T	ENSP00000506978.1:p.Thr527Ile
XM_017008586.1:c.1589C>T	XP_016864075.1:p.Thr530Ile