Canonical Allele Identifier: CA356176867
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301593A>T , CM000666.2:g.6301593A>T GRCh38
NC_000004.11:g.6303320A>T , CM000666.1:g.6303320A>T GRCh37
NC_000004.10:g.6354221A>T NCBI36
NG_011700.1:g.36744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1834A>T ENSP00000507852.1:p.Thr612Ser
ENST00000683395.1:c.1775A>T
ENST00000684087.1:c.1798A>T ENSP00000506978.1:p.Thr600Ser
ENST00000506362.2:c.1549A>T ENSP00000424103.2:p.Thr517Ser
ENST00000673642.1:c.1457A>T ENSP00000501242.1:n.1457A>T
ENST00000673991.1:c.1834A>T ENSP00000501033.1:p.Thr612Ser
ENST00000226760.5:c.1798A>T MANE Select ENSP00000226760.1:p.Thr600Ser
ENST00000503569.5:c.1798A>T ENSP00000423337.1:p.Thr600Ser
ENST00000507765.1:n.1983A>T
NM_001145853.1:c.1798A>T NP_001139325.1:p.Thr600Ser
NM_006005.3:c.1798A>T MANE Select NP_005996.2:p.Thr600Ser
XM_017008586.1:c.1807A>T XP_016864075.1:p.Thr603Ser