Canonical Allele Identifier: CA356177131
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301732T>G , CM000666.2:g.6301732T>G GRCh38
NC_000004.11:g.6303459T>G , CM000666.1:g.6303459T>G GRCh37
NC_000004.10:g.6354360T>G NCBI36
NG_011700.1:g.36883T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1973T>G ENSP00000507852.1:p.Phe658Cys
ENST00000683395.1:c.1914T>G
ENST00000684087.1:c.1937T>G ENSP00000506978.1:p.Phe646Cys
ENST00000506362.2:c.1688T>G ENSP00000424103.2:p.Phe563Cys
ENST00000673642.1:c.1596T>G ENSP00000501242.1:n.1596T>G
ENST00000673991.1:c.1973T>G ENSP00000501033.1:p.Phe658Cys
ENST00000226760.5:c.1937T>G MANE Select ENSP00000226760.1:p.Phe646Cys
ENST00000503569.5:c.1937T>G ENSP00000423337.1:p.Phe646Cys
ENST00000507765.1:n.2122T>G
NM_001145853.1:c.1937T>G NP_001139325.1:p.Phe646Cys
NM_006005.3:c.1937T>G MANE Select NP_005996.2:p.Phe646Cys
XM_017008586.1:c.1946T>G XP_016864075.1:p.Phe649Cys