Canonical Allele Identifier: CA1435762559
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277580G= , CM000666.2:g.6277580G= GRCh38
NC_000004.11:g.6279307G= , CM000666.1:g.6279307G= GRCh37
NC_000004.10:g.6330208G= NCBI36
NG_011700.1:g.12731G=

Transcript Alleles

HGVS Amino-acid change
ENST00000506588.6:n.295G=
ENST00000682059.1:c.125G= ENSP00000507988.1:p.Arg42=
ENST00000682275.1:c.125G= ENSP00000507852.1:p.Arg42=
ENST00000683395.1:c.115G=
ENST00000684054.1:c.125G= ENSP00000507120.1:p.Arg42=
ENST00000684087.1:c.125G= ENSP00000506978.1:p.Arg42=
ENST00000684700.1:c.125G= ENSP00000507806.1:p.Arg42=
ENST00000506362.2:c.-18+7566G= ENSP00000424103.2:n.-18+7566G=
ENST00000673991.1:c.125G= ENSP00000501033.1:p.Arg42=
ENST00000674051.1:c.66+59G= ENSP00000501083.1:n.66+59G=
ENST00000226760.5:c.125G= MANE Select ENSP00000226760.1:p.Arg42=
ENST00000503569.5:c.125G= ENSP00000423337.1:p.Arg42=
ENST00000506588.5:n.295G=
NM_001145853.1:c.125G= NP_001139325.1:p.Arg42=
NM_006005.3:c.125G= MANE Select NP_005996.2:p.Arg42=
XM_017008586.1:c.134G= XP_016864075.1:p.Arg45=