Canonical Allele Identifier: CA1435772330
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300883A= , CM000666.2:g.6300883A= GRCh38
NC_000004.11:g.6302610A= , CM000666.1:g.6302610A= GRCh37
NC_000004.10:g.6353511A= NCBI36
NG_011700.1:g.36034A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1124A= ENSP00000507852.1:p.Lys375=
ENST00000683395.1:c.1065A=
ENST00000684087.1:c.1088A= ENSP00000506978.1:p.Lys363=
ENST00000506362.2:c.839A= ENSP00000424103.2:p.Lys280=
ENST00000673642.1:c.747A= ENSP00000501242.1:p.Gln249=
ENST00000673991.1:c.1124A= ENSP00000501033.1:p.Lys375=
ENST00000226760.5:c.1088A= MANE Select ENSP00000226760.1:p.Lys363=
ENST00000503569.5:c.1088A= ENSP00000423337.1:p.Lys363=
ENST00000506362.1:c.721A=
ENST00000507765.1:n.1273A=
NM_001145853.1:c.1088A= NP_001139325.1:p.Lys363=
NM_006005.3:c.1088A= MANE Select NP_005996.2:p.Lys363=
XM_017008586.1:c.1097A= XP_016864075.1:p.Lys366=