Canonical Allele Identifier: CA356174182
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300861T>C , CM000666.2:g.6300861T>C GRCh38
NC_000004.11:g.6302588T>C , CM000666.1:g.6302588T>C GRCh37
NC_000004.10:g.6353489T>C NCBI36
NG_011700.1:g.36012T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1102T>C ENSP00000507852.1:p.Ser368Pro
ENST00000683395.1:c.1043T>C
ENST00000684087.1:c.1066T>C ENSP00000506978.1:p.Ser356Pro
ENST00000506362.2:c.817T>C ENSP00000424103.2:p.Ser273Pro
ENST00000673642.1:c.725T>C ENSP00000501242.1:p.Leu242Pro
ENST00000673991.1:c.1102T>C ENSP00000501033.1:p.Ser368Pro
ENST00000226760.5:c.1066T>C MANE Select ENSP00000226760.1:p.Ser356Pro
ENST00000503569.5:c.1066T>C ENSP00000423337.1:p.Ser356Pro
ENST00000506362.1:c.699T>C
ENST00000507765.1:n.1251T>C
NM_001145853.1:c.1066T>C NP_001139325.1:p.Ser356Pro
NM_006005.3:c.1066T>C MANE Select NP_005996.2:p.Ser356Pro
XM_017008586.1:c.1075T>C XP_016864075.1:p.Ser359Pro