Canonical Allele Identifier: CA1435771928
Community Standard Title: NM_006005.3(WFS1):c.2020G= (p.Gly674=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301815G= , CM000666.2:g.6301815G= GRCh38
NC_000004.11:g.6303542G= , CM000666.1:g.6303542G= GRCh37
NC_000004.10:g.6354443G= NCBI36
NG_011700.1:g.36966G=

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2020G= MANE Select NP_005996.2:p.Gly674=
ENST00000226760.5:c.2020G= MANE Select ENSP00000226760.1:p.Gly674=
NM_001145853.1:c.2020G= NP_001139325.1:p.Gly674=
ENST00000503569.5:c.2020G= ENSP00000423337.1:p.Gly674=
ENST00000506362.2:c.1771G= ENSP00000424103.2:p.Gly591=
ENST00000507765.1:n.2205G=
ENST00000673642.1:c.1679G= ENSP00000501242.1:n.1679G=
ENST00000673991.1:c.2056G= ENSP00000501033.1:p.Gly686=
ENST00000682275.1:c.2056G= ENSP00000507852.1:p.Gly686=
ENST00000683395.1:c.1997G=
ENST00000684087.1:c.2020G= ENSP00000506978.1:p.Gly674=
XM_017008586.1:c.2029G= XP_016864075.1:p.Gly677=