Canonical Allele Identifier: CA2838793

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277536C>T , CM000666.2:g.6277536C>T	GRCh38
NC_000004.11:g.6279263C>T , CM000666.1:g.6279263C>T	GRCh37
NC_000004.10:g.6330164C>T	NCBI36
NG_011700.1:g.12687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.81C>T MANE Select	NP_005996.2:p.Leu27=
ENST00000226760.5:c.81C>T MANE Select	ENSP00000226760.1:p.Leu27=
NM_001145853.1:c.81C>T	NP_001139325.1:p.Leu27=
ENST00000503569.5:c.81C>T	ENSP00000423337.1:p.Leu27=
ENST00000506362.2:c.-18+7522C>T	ENSP00000424103.2:n.-18+7522C>T
ENST00000506588.5:n.251C>T
ENST00000506588.6:n.251C>T
ENST00000673991.1:c.81C>T	ENSP00000501033.1:p.Leu27=
ENST00000674051.1:c.66+15C>T	ENSP00000501083.1:n.66+15C>T
ENST00000682059.1:c.81C>T	ENSP00000507988.1:p.Leu27=
ENST00000682275.1:c.81C>T	ENSP00000507852.1:p.Leu27=
ENST00000683395.1:c.71C>T
ENST00000684054.1:c.81C>T	ENSP00000507120.1:p.Leu27=
ENST00000684087.1:c.81C>T	ENSP00000506978.1:p.Leu27=
ENST00000684700.1:c.81C>T	ENSP00000507806.1:p.Leu27=
XM_017008586.1:c.90C>T	XP_016864075.1:p.Leu30=