Canonical Allele Identifier: CA356177244

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301786T>G , CM000666.2:g.6301786T>G	GRCh38
NC_000004.11:g.6303513T>G , CM000666.1:g.6303513T>G	GRCh37
NC_000004.10:g.6354414T>G	NCBI36
NG_011700.1:g.36937T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1991T>G MANE Select	NP_005996.2:p.Leu664Arg
ENST00000226760.5:c.1991T>G MANE Select	ENSP00000226760.1:p.Leu664Arg
NM_001145853.1:c.1991T>G	NP_001139325.1:p.Leu664Arg
ENST00000503569.5:c.1991T>G	ENSP00000423337.1:p.Leu664Arg
ENST00000506362.2:c.1742T>G	ENSP00000424103.2:p.Leu581Arg
ENST00000507765.1:n.2176T>G
ENST00000673642.1:c.1650T>G	ENSP00000501242.1:n.1650T>G
ENST00000673991.1:c.2027T>G	ENSP00000501033.1:p.Leu676Arg
ENST00000682275.1:c.2027T>G	ENSP00000507852.1:p.Leu676Arg
ENST00000683395.1:c.1968T>G
ENST00000684087.1:c.1991T>G	ENSP00000506978.1:p.Leu664Arg
XM_017008586.1:c.2000T>G	XP_016864075.1:p.Leu667Arg