Canonical Allele Identifier: CA438210874

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6289116T>C , CM000666.2:g.6289116T>C	GRCh38
NC_000004.11:g.6290843T>C , CM000666.1:g.6290843T>C	GRCh37
NC_000004.10:g.6341744T>C	NCBI36
NG_011700.1:g.24267T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.445T>C MANE Select	NP_005996.2:p.Leu149=
ENST00000226760.5:c.445T>C MANE Select	ENSP00000226760.1:p.Leu149=
NM_001145853.1:c.445T>C	NP_001139325.1:p.Leu149=
ENST00000503569.5:c.445T>C	ENSP00000423337.1:p.Leu149=
ENST00000506362.1:c.42T>C
ENST00000506362.2:c.196T>C	ENSP00000424103.2:p.Leu66=
ENST00000507765.1:n.630T>C
ENST00000673642.1:c.244T>C	ENSP00000501242.1:p.Leu82=
ENST00000673991.1:c.445T>C	ENSP00000501033.1:p.Leu149=
ENST00000674051.1:c.319T>C	ENSP00000501083.1:p.Leu107=
ENST00000682275.1:c.445T>C	ENSP00000507852.1:p.Leu149=
ENST00000683395.1:c.435T>C
ENST00000684054.1:c.445T>C	ENSP00000507120.1:p.Leu149=
ENST00000684087.1:c.445T>C	ENSP00000506978.1:p.Leu149=
ENST00000684700.1:c.445T>C	ENSP00000507806.1:p.Leu149=
XM_017008586.1:c.454T>C	XP_016864075.1:p.Leu152=