Canonical Allele Identifier: CA356174184
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6300862-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300862C>A , CM000666.2:g.6300862C>A GRCh38
NC_000004.11:g.6302589C>A , CM000666.1:g.6302589C>A GRCh37
NC_000004.10:g.6353490C>A NCBI36
NG_011700.1:g.36013C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1103C>A ENSP00000507852.1:p.Ser368Tyr
ENST00000683395.1:c.1044C>A
ENST00000684087.1:c.1067C>A ENSP00000506978.1:p.Ser356Tyr
ENST00000506362.2:c.818C>A ENSP00000424103.2:p.Ser273Tyr
ENST00000673642.1:c.726C>A ENSP00000501242.1:p.Leu242=
ENST00000673991.1:c.1103C>A ENSP00000501033.1:p.Ser368Tyr
ENST00000226760.5:c.1067C>A MANE Select ENSP00000226760.1:p.Ser356Tyr
ENST00000503569.5:c.1067C>A ENSP00000423337.1:p.Ser356Tyr
ENST00000506362.1:c.700C>A
ENST00000507765.1:n.1252C>A
NM_001145853.1:c.1067C>A NP_001139325.1:p.Ser356Tyr
NM_006005.3:c.1067C>A MANE Select NP_005996.2:p.Ser356Tyr
XM_017008586.1:c.1076C>A XP_016864075.1:p.Ser359Tyr