Canonical Allele Identifier: CA1435771741
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301730G= , CM000666.2:g.6301730G= GRCh38
NC_000004.11:g.6303457G= , CM000666.1:g.6303457G= GRCh37
NC_000004.10:g.6354358G= NCBI36
NG_011700.1:g.36881G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1971G= ENSP00000507852.1:p.Leu657=
ENST00000683395.1:c.1912G=
ENST00000684087.1:c.1935G= ENSP00000506978.1:p.Leu645=
ENST00000506362.2:c.1686G= ENSP00000424103.2:p.Leu562=
ENST00000673642.1:c.1594G= ENSP00000501242.1:n.1594G=
ENST00000673991.1:c.1971G= ENSP00000501033.1:p.Leu657=
ENST00000226760.5:c.1935G= MANE Select ENSP00000226760.1:p.Leu645=
ENST00000503569.5:c.1935G= ENSP00000423337.1:p.Leu645=
ENST00000507765.1:n.2120G=
NM_001145853.1:c.1935G= NP_001139325.1:p.Leu645=
NM_006005.3:c.1935G= MANE Select NP_005996.2:p.Leu645=
XM_017008586.1:c.1944G= XP_016864075.1:p.Leu648=