Canonical Allele Identifier: CA356171869
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291216A>C , CM000666.2:g.6291216A>C GRCh38
NC_000004.11:g.6292943A>C , CM000666.1:g.6292943A>C GRCh37
NC_000004.10:g.6343844A>C NCBI36
NG_011700.1:g.26367A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.480A>C ENSP00000507852.1:p.Glu160Asp
ENST00000683395.1:c.470A>C
ENST00000684087.1:c.480A>C ENSP00000506978.1:p.Glu160Asp
ENST00000684700.1:c.480A>C ENSP00000507806.1:p.Glu160Asp
ENST00000506362.2:c.231A>C ENSP00000424103.2:p.Glu77Asp
ENST00000673642.1:c.279A>C ENSP00000501242.1:p.Glu93Asp
ENST00000673991.1:c.480A>C ENSP00000501033.1:p.Glu160Asp
ENST00000674051.1:c.354A>C ENSP00000501083.1:p.Glu118Asp
ENST00000226760.5:c.480A>C MANE Select ENSP00000226760.1:p.Glu160Asp
ENST00000503569.5:c.480A>C ENSP00000423337.1:p.Glu160Asp
ENST00000506362.1:c.77A>C
ENST00000507765.1:n.665A>C
NM_001145853.1:c.480A>C NP_001139325.1:p.Glu160Asp
NM_006005.3:c.480A>C MANE Select NP_005996.2:p.Glu160Asp
XM_017008586.1:c.489A>C XP_016864075.1:p.Glu163Asp