Canonical Allele Identifier: CA356176854
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301585T>C , CM000666.2:g.6301585T>C GRCh38
NC_000004.11:g.6303312T>C , CM000666.1:g.6303312T>C GRCh37
NC_000004.10:g.6354213T>C NCBI36
NG_011700.1:g.36736T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1826T>C ENSP00000507852.1:p.Ile609Thr
ENST00000683395.1:c.1767T>C
ENST00000684087.1:c.1790T>C ENSP00000506978.1:p.Ile597Thr
ENST00000506362.2:c.1541T>C ENSP00000424103.2:p.Ile514Thr
ENST00000673642.1:c.1449T>C ENSP00000501242.1:n.1449T>C
ENST00000673991.1:c.1826T>C ENSP00000501033.1:p.Ile609Thr
ENST00000226760.5:c.1790T>C MANE Select ENSP00000226760.1:p.Ile597Thr
ENST00000503569.5:c.1790T>C ENSP00000423337.1:p.Ile597Thr
ENST00000507765.1:n.1975T>C
NM_001145853.1:c.1790T>C NP_001139325.1:p.Ile597Thr
NM_006005.3:c.1790T>C MANE Select NP_005996.2:p.Ile597Thr
XM_017008586.1:c.1799T>C XP_016864075.1:p.Ile600Thr