Canonical Allele Identifier: CA295785

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289024A>C , CM000666.2:g.6289024A>C	GRCh38
NC_000004.11:g.6290751A>C , CM000666.1:g.6290751A>C	GRCh37
NC_000004.10:g.6341652A>C	NCBI36
NG_011700.1:g.24175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.353A>C	ENSP00000507852.1:p.Asp118Ala
ENST00000683395.1:c.343A>C
ENST00000684054.1:c.353A>C	ENSP00000507120.1:p.Asp118Ala
ENST00000684087.1:c.353A>C	ENSP00000506978.1:p.Asp118Ala
ENST00000684700.1:c.353A>C	ENSP00000507806.1:p.Asp118Ala
ENST00000506362.2:c.104A>C	ENSP00000424103.2:p.Asp35Ala
ENST00000673642.1:c.152A>C	ENSP00000501242.1:p.Asp51Ala
ENST00000673991.1:c.353A>C	ENSP00000501033.1:p.Asp118Ala
ENST00000674051.1:c.227A>C	ENSP00000501083.1:p.Asp76Ala
ENST00000226760.5:c.353A>C MANE Select	ENSP00000226760.1:p.Asp118Ala
ENST00000503569.5:c.353A>C	ENSP00000423337.1:p.Asp118Ala
ENST00000507765.1:n.538A>C
NM_001145853.1:c.353A>C	NP_001139325.1:p.Asp118Ala
NM_006005.3:c.353A>C MANE Select	NP_005996.2:p.Asp118Ala
XM_017008586.1:c.362A>C	XP_016864075.1:p.Asp121Ala