Canonical Allele Identifier: CA2839069

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295146A>C , CM000666.2:g.6295146A>C	GRCh38
NC_000004.11:g.6296873A>C , CM000666.1:g.6296873A>C	GRCh37
NC_000004.10:g.6347774A>C	NCBI36
NG_011700.1:g.30297A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.818A>C MANE Select	NP_005996.2:p.Glu273Ala
ENST00000226760.5:c.818A>C MANE Select	ENSP00000226760.1:p.Glu273Ala
NM_001145853.1:c.818A>C	NP_001139325.1:p.Glu273Ala
ENST00000503569.5:c.818A>C	ENSP00000423337.1:p.Glu273Ala
ENST00000506362.1:c.451A>C
ENST00000506362.2:c.569A>C	ENSP00000424103.2:p.Glu190Ala
ENST00000507765.1:n.1003A>C
ENST00000513395.1:n.376A>C
ENST00000673642.1:c.617A>C	ENSP00000501242.1:p.Glu206Ala
ENST00000673991.1:c.854A>C	ENSP00000501033.1:p.Glu285Ala
ENST00000682275.1:c.854A>C	ENSP00000507852.1:p.Glu285Ala
ENST00000683395.1:c.795A>C
ENST00000684087.1:c.818A>C	ENSP00000506978.1:p.Glu273Ala
XM_017008586.1:c.827A>C	XP_016864075.1:p.Glu276Ala