Canonical Allele Identifier: CA129328

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301846C>T , CM000666.2:g.6301846C>T	GRCh38
NC_000004.11:g.6303573C>T , CM000666.1:g.6303573C>T	GRCh37
NC_000004.10:g.6354474C>T	NCBI36
NG_011700.1:g.36997C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2051C>T MANE Select	NP_005996.2:p.Ala684Val
ENST00000226760.5:c.2051C>T MANE Select	ENSP00000226760.1:p.Ala684Val
NM_001145853.1:c.2051C>T	NP_001139325.1:p.Ala684Val
ENST00000503569.5:c.2051C>T	ENSP00000423337.1:p.Ala684Val
ENST00000506362.2:c.1802C>T	ENSP00000424103.2:p.Ala601Val
ENST00000507765.1:n.2236C>T
ENST00000673642.1:c.1710C>T	ENSP00000501242.1:n.1710C>T
ENST00000673991.1:c.2087C>T	ENSP00000501033.1:p.Ala696Val
ENST00000682275.1:c.2087C>T	ENSP00000507852.1:p.Ala696Val
ENST00000683395.1:c.2028C>T
ENST00000684087.1:c.2051C>T	ENSP00000506978.1:p.Ala684Val
XM_017008586.1:c.2060C>T	XP_016864075.1:p.Ala687Val