Canonical Allele Identifier: CA2839658

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302041C>T , CM000666.2:g.6302041C>T	GRCh38
NC_000004.11:g.6303768C>T , CM000666.1:g.6303768C>T	GRCh37
NC_000004.10:g.6354669C>T	NCBI36
NG_011700.1:g.37192C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2246C>T MANE Select	NP_005996.2:p.Thr749Met
ENST00000226760.5:c.2246C>T MANE Select	ENSP00000226760.1:p.Thr749Met
NM_001145853.1:c.2246C>T	NP_001139325.1:p.Thr749Met
ENST00000503569.5:c.2246C>T	ENSP00000423337.1:p.Thr749Met
ENST00000506362.2:c.1997C>T	ENSP00000424103.2:p.Thr666Met
ENST00000507765.1:n.2431C>T
ENST00000673642.1:c.1905C>T	ENSP00000501242.1:n.1905C>T
ENST00000673991.1:c.2282C>T	ENSP00000501033.1:p.Thr761Met
ENST00000682275.1:c.2282C>T	ENSP00000507852.1:p.Thr761Met
ENST00000683395.1:c.2223C>T
ENST00000684087.1:c.2246C>T	ENSP00000506978.1:p.Thr749Met
XM_017008586.1:c.2255C>T	XP_016864075.1:p.Thr752Met