Canonical Allele Identifier: CA1435771689
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301698C= , CM000666.2:g.6301698C= GRCh38
NC_000004.11:g.6303425C= , CM000666.1:g.6303425C= GRCh37
NC_000004.10:g.6354326C= NCBI36
NG_011700.1:g.36849C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1939C= ENSP00000507852.1:p.Leu647=
ENST00000683395.1:c.1880C=
ENST00000684087.1:c.1903C= ENSP00000506978.1:p.Leu635=
ENST00000506362.2:c.1654C= ENSP00000424103.2:p.Leu552=
ENST00000673642.1:c.1562C= ENSP00000501242.1:n.1562C=
ENST00000673991.1:c.1939C= ENSP00000501033.1:p.Leu647=
ENST00000226760.5:c.1903C= MANE Select ENSP00000226760.1:p.Leu635=
ENST00000503569.5:c.1903C= ENSP00000423337.1:p.Leu635=
ENST00000507765.1:n.2088C=
NM_001145853.1:c.1903C= NP_001139325.1:p.Leu635=
NM_006005.3:c.1903C= MANE Select NP_005996.2:p.Leu635=
XM_017008586.1:c.1912C= XP_016864075.1:p.Leu638=