Canonical Allele Identifier: CA116903

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302385G>A , CM000666.2:g.6302385G>A	GRCh38
NC_000004.11:g.6304112G>A , CM000666.1:g.6304112G>A	GRCh37
NC_000004.10:g.6355013G>A	NCBI36
NG_011700.1:g.37536G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2590G>A MANE Select	NP_005996.2:p.Glu864Lys
ENST00000226760.5:c.2590G>A MANE Select	ENSP00000226760.1:p.Glu864Lys
NM_001145853.1:c.2590G>A	NP_001139325.1:p.Glu864Lys
ENST00000503569.5:c.2590G>A	ENSP00000423337.1:p.Glu864Lys
ENST00000506362.2:c.2341G>A	ENSP00000424103.2:p.Glu781Lys
ENST00000507765.1:n.2775G>A
ENST00000673991.1:c.2626G>A	ENSP00000501033.1:p.Glu876Lys
ENST00000682275.1:c.2626G>A	ENSP00000507852.1:p.Glu876Lys
ENST00000683395.1:c.2567G>A
ENST00000684087.1:c.2590G>A	ENSP00000506978.1:p.Glu864Lys
XM_017008586.1:c.2599G>A	XP_016864075.1:p.Glu867Lys