Canonical Allele Identifier: CA356177275

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301801A>G , CM000666.2:g.6301801A>G	GRCh38
NC_000004.11:g.6303528A>G , CM000666.1:g.6303528A>G	GRCh37
NC_000004.10:g.6354429A>G	NCBI36
NG_011700.1:g.36952A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2006A>G MANE Select	NP_005996.2:p.Tyr669Cys
ENST00000226760.5:c.2006A>G MANE Select	ENSP00000226760.1:p.Tyr669Cys
NM_001145853.1:c.2006A>G	NP_001139325.1:p.Tyr669Cys
ENST00000503569.5:c.2006A>G	ENSP00000423337.1:p.Tyr669Cys
ENST00000506362.2:c.1757A>G	ENSP00000424103.2:p.Tyr586Cys
ENST00000507765.1:n.2191A>G
ENST00000673642.1:c.1665A>G	ENSP00000501242.1:n.1665A>G
ENST00000673991.1:c.2042A>G	ENSP00000501033.1:p.Tyr681Cys
ENST00000682275.1:c.2042A>G	ENSP00000507852.1:p.Tyr681Cys
ENST00000683395.1:c.1983A>G
ENST00000684087.1:c.2006A>G	ENSP00000506978.1:p.Tyr669Cys
XM_017008586.1:c.2015A>G	XP_016864075.1:p.Tyr672Cys