Canonical Allele Identifier: CA356172033

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291295C>T , CM000666.2:g.6291295C>T	GRCh38
NC_000004.11:g.6293022C>T , CM000666.1:g.6293022C>T	GRCh37
NC_000004.10:g.6343923C>T	NCBI36
NG_011700.1:g.26446C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.559C>T MANE Select	NP_005996.2:p.Leu187Phe
ENST00000226760.5:c.559C>T MANE Select	ENSP00000226760.1:p.Leu187Phe
NM_001145853.1:c.559C>T	NP_001139325.1:p.Leu187Phe
ENST00000503569.5:c.559C>T	ENSP00000423337.1:p.Leu187Phe
ENST00000506362.1:c.156C>T
ENST00000506362.2:c.310C>T	ENSP00000424103.2:p.Leu104Phe
ENST00000507765.1:n.744C>T
ENST00000673642.1:c.358C>T	ENSP00000501242.1:p.Leu120Phe
ENST00000673991.1:c.559C>T	ENSP00000501033.1:p.Leu187Phe
ENST00000674051.1:c.433C>T	ENSP00000501083.1:p.Leu145Phe
ENST00000682275.1:c.559C>T	ENSP00000507852.1:p.Leu187Phe
ENST00000683395.1:c.549C>T
ENST00000684087.1:c.559C>T	ENSP00000506978.1:p.Leu187Phe
ENST00000684700.1:c.559C>T	ENSP00000507806.1:p.Leu187Phe
XM_017008586.1:c.568C>T	XP_016864075.1:p.Leu190Phe