Canonical Allele Identifier: CA356178817
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302314T>G , CM000666.2:g.6302314T>G GRCh38
NC_000004.11:g.6304041T>G , CM000666.1:g.6304041T>G GRCh37
NC_000004.10:g.6354942T>G NCBI36
NG_011700.1:g.37465T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2555T>G ENSP00000507852.1:p.Phe852Cys
ENST00000683395.1:c.2496T>G
ENST00000684087.1:c.2519T>G ENSP00000506978.1:p.Phe840Cys
ENST00000506362.2:c.2270T>G ENSP00000424103.2:p.Phe757Cys
ENST00000673991.1:c.2555T>G ENSP00000501033.1:p.Phe852Cys
ENST00000226760.5:c.2519T>G MANE Select ENSP00000226760.1:p.Phe840Cys
ENST00000503569.5:c.2519T>G ENSP00000423337.1:p.Phe840Cys
ENST00000507765.1:n.2704T>G
NM_001145853.1:c.2519T>G NP_001139325.1:p.Phe840Cys
NM_006005.3:c.2519T>G MANE Select NP_005996.2:p.Phe840Cys
XM_017008586.1:c.2528T>G XP_016864075.1:p.Phe843Cys