Canonical Allele Identifier: CA1435772673
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301084C= , CM000666.2:g.6301084C= GRCh38
NC_000004.11:g.6302811C= , CM000666.1:g.6302811C= GRCh37
NC_000004.10:g.6353712C= NCBI36
NG_011700.1:g.36235C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1325C= ENSP00000507852.1:p.Ser442=
ENST00000683395.1:c.1266C=
ENST00000684087.1:c.1289C= ENSP00000506978.1:p.Ser430=
ENST00000506362.2:c.1040C= ENSP00000424103.2:p.Ser347=
ENST00000673642.1:c.948C= ENSP00000501242.1:p.Leu316=
ENST00000673991.1:c.1325C= ENSP00000501033.1:p.Ser442=
ENST00000226760.5:c.1289C= MANE Select ENSP00000226760.1:p.Ser430=
ENST00000503569.5:c.1289C= ENSP00000423337.1:p.Ser430=
ENST00000507765.1:n.1474C=
NM_001145853.1:c.1289C= NP_001139325.1:p.Ser430=
NM_006005.3:c.1289C= MANE Select NP_005996.2:p.Ser430=
XM_017008586.1:c.1298C= XP_016864075.1:p.Ser433=