Canonical Allele Identifier: CA356176114
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301380T>G , CM000666.2:g.6301380T>G GRCh38
NC_000004.11:g.6303107T>G , CM000666.1:g.6303107T>G GRCh37
NC_000004.10:g.6354008T>G NCBI36
NG_011700.1:g.36531T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1621T>G ENSP00000507852.1:p.Cys541Gly
ENST00000683395.1:c.1562T>G
ENST00000684087.1:c.1585T>G ENSP00000506978.1:p.Cys529Gly
ENST00000506362.2:c.1336T>G ENSP00000424103.2:p.Cys446Gly
ENST00000673642.1:c.1244T>G ENSP00000501242.1:p.Leu415Arg
ENST00000673991.1:c.1621T>G ENSP00000501033.1:p.Cys541Gly
ENST00000226760.5:c.1585T>G MANE Select ENSP00000226760.1:p.Cys529Gly
ENST00000503569.5:c.1585T>G ENSP00000423337.1:p.Cys529Gly
ENST00000507765.1:n.1770T>G
NM_001145853.1:c.1585T>G NP_001139325.1:p.Cys529Gly
NM_006005.3:c.1585T>G MANE Select NP_005996.2:p.Cys529Gly
XM_017008586.1:c.1594T>G XP_016864075.1:p.Cys532Gly