Canonical Allele Identifier: CA295570

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295127G>A , CM000666.2:g.6295127G>A	GRCh38
NC_000004.11:g.6296854G>A , CM000666.1:g.6296854G>A	GRCh37
NC_000004.10:g.6347755G>A	NCBI36
NG_011700.1:g.30278G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.799G>A MANE Select	NP_005996.2:p.Asp267Asn
ENST00000226760.5:c.799G>A MANE Select	ENSP00000226760.1:p.Asp267Asn
NM_001145853.1:c.799G>A	NP_001139325.1:p.Asp267Asn
ENST00000503569.5:c.799G>A	ENSP00000423337.1:p.Asp267Asn
ENST00000506362.1:c.432G>A
ENST00000506362.2:c.550G>A	ENSP00000424103.2:p.Asp184Asn
ENST00000507765.1:n.984G>A
ENST00000513395.1:n.357G>A
ENST00000673642.1:c.598G>A	ENSP00000501242.1:p.Asp200Asn
ENST00000673991.1:c.835G>A	ENSP00000501033.1:p.Asp279Asn
ENST00000682275.1:c.835G>A	ENSP00000507852.1:p.Asp279Asn
ENST00000683395.1:c.776G>A
ENST00000684087.1:c.799G>A	ENSP00000506978.1:p.Asp267Asn
XM_017008586.1:c.808G>A	XP_016864075.1:p.Asp270Asn