Canonical Allele Identifier: CA1435773430
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301389G= , CM000666.2:g.6301389G= GRCh38
NC_000004.11:g.6303116G= , CM000666.1:g.6303116G= GRCh37
NC_000004.10:g.6354017G= NCBI36
NG_011700.1:g.36540G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1630G= ENSP00000507852.1:p.Val544=
ENST00000683395.1:c.1571G=
ENST00000684087.1:c.1594G= ENSP00000506978.1:p.Val532=
ENST00000506362.2:c.1345G= ENSP00000424103.2:p.Val449=
ENST00000673642.1:c.1253G= ENSP00000501242.1:p.Cys418=
ENST00000673991.1:c.1630G= ENSP00000501033.1:p.Val544=
ENST00000226760.5:c.1594G= MANE Select ENSP00000226760.1:p.Val532=
ENST00000503569.5:c.1594G= ENSP00000423337.1:p.Val532=
ENST00000507765.1:n.1779G=
NM_001145853.1:c.1594G= NP_001139325.1:p.Val532=
NM_006005.3:c.1594G= MANE Select NP_005996.2:p.Val532=
XM_017008586.1:c.1603G= XP_016864075.1:p.Val535=