Canonical Allele Identifier: CA1435772567
Community Standard Title: NM_006005.3(WFS1):c.2486T= (p.Leu829=)
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302281T= , CM000666.2:g.6302281T= GRCh38
NC_000004.11:g.6304008T= , CM000666.1:g.6304008T= GRCh37
NC_000004.10:g.6354909T= NCBI36
NG_011700.1:g.37432T=

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2486T= MANE Select NP_005996.2:p.Leu829=
ENST00000226760.5:c.2486T= MANE Select ENSP00000226760.1:p.Leu829=
NM_001145853.1:c.2486T= NP_001139325.1:p.Leu829=
ENST00000503569.5:c.2486T= ENSP00000423337.1:p.Leu829=
ENST00000506362.2:c.2237T= ENSP00000424103.2:p.Leu746=
ENST00000507765.1:n.2671T=
ENST00000673991.1:c.2522T= ENSP00000501033.1:p.Leu841=
ENST00000682275.1:c.2522T= ENSP00000507852.1:p.Leu841=
ENST00000683395.1:c.2463T=
ENST00000684087.1:c.2486T= ENSP00000506978.1:p.Leu829=
XM_017008586.1:c.2495T= XP_016864075.1:p.Leu832=