Canonical Allele Identifier: CA1435768684
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291414T= , CM000666.2:g.6291414T= GRCh38
NC_000004.11:g.6293141T= , CM000666.1:g.6293141T= GRCh37
NC_000004.10:g.6344042T= NCBI36
NG_011700.1:g.26565T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+47T= ENSP00000507852.1:n.631+47T=
ENST00000683395.1:c.608+60T=
ENST00000684087.1:c.631+47T= ENSP00000506978.1:n.631+47T=
ENST00000684700.1:c.678T= ENSP00000507806.1:p.Leu226=
ENST00000506362.2:c.382+47T= ENSP00000424103.2:n.382+47T=
ENST00000673642.1:c.430+47T= ENSP00000501242.1:n.430+47T=
ENST00000673991.1:c.631+47T= ENSP00000501033.1:n.631+47T=
ENST00000226760.5:c.631+47T= MANE Select ENSP00000226760.1:n.631+47T=
ENST00000503569.5:c.631+47T= ENSP00000423337.1:n.631+47T=
ENST00000506362.1:c.228+47T=
ENST00000507765.1:n.816+47T=
NM_001145853.1:c.631+47T= NP_001139325.1:n.631+47T=
NM_006005.3:c.631+47T= MANE Select NP_005996.2:n.631+47T=
XM_017008586.1:c.640+47T= XP_016864075.1:n.640+47T=