Canonical Allele Identifier: CA253207

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302371G>A , CM000666.2:g.6302371G>A	GRCh38
NC_000004.11:g.6304098G>A , CM000666.1:g.6304098G>A	GRCh37
NC_000004.10:g.6354999G>A	NCBI36
NG_011700.1:g.37522G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.2576G>A MANE Select	NP_005996.2:p.Arg859Gln
ENST00000226760.5:c.2576G>A MANE Select	ENSP00000226760.1:p.Arg859Gln
NM_001145853.1:c.2576G>A	NP_001139325.1:p.Arg859Gln
ENST00000503569.5:c.2576G>A	ENSP00000423337.1:p.Arg859Gln
ENST00000506362.2:c.2327G>A	ENSP00000424103.2:p.Arg776Gln
ENST00000507765.1:n.2761G>A
ENST00000673991.1:c.2612G>A	ENSP00000501033.1:p.Arg871Gln
ENST00000682275.1:c.2612G>A	ENSP00000507852.1:p.Arg871Gln
ENST00000683395.1:c.2553G>A
ENST00000684087.1:c.2576G>A	ENSP00000506978.1:p.Arg859Gln
XM_017008586.1:c.2585G>A	XP_016864075.1:p.Arg862Gln