Canonical Allele Identifier: CA1435772021
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300703T= , CM000666.2:g.6300703T= GRCh38
NC_000004.11:g.6302430T= , CM000666.1:g.6302430T= GRCh37
NC_000004.10:g.6353331T= NCBI36
NG_011700.1:g.35854T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.944T= ENSP00000507852.1:p.Leu315=
ENST00000683395.1:c.885T=
ENST00000684087.1:c.908T= ENSP00000506978.1:p.Leu303=
ENST00000506362.2:c.659T= ENSP00000424103.2:p.Leu220=
ENST00000673642.1:c.661-94T= ENSP00000501242.1:n.661-94T=
ENST00000673991.1:c.944T= ENSP00000501033.1:p.Leu315=
ENST00000226760.5:c.908T= MANE Select ENSP00000226760.1:p.Leu303=
ENST00000503569.5:c.908T= ENSP00000423337.1:p.Leu303=
ENST00000506362.1:c.541T=
ENST00000507765.1:n.1093T=
ENST00000513395.1:n.466T=
NM_001145853.1:c.908T= NP_001139325.1:p.Leu303=
NM_006005.3:c.908T= MANE Select NP_005996.2:p.Leu303=
XM_017008586.1:c.917T= XP_016864075.1:p.Leu306=