Canonical Allele Identifier: CA356172050
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291302C>T , CM000666.2:g.6291302C>T GRCh38
NC_000004.11:g.6293029C>T , CM000666.1:g.6293029C>T GRCh37
NC_000004.10:g.6343930C>T NCBI36
NG_011700.1:g.26453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.566C>T ENSP00000507852.1:p.Pro189Leu
ENST00000683395.1:c.556C>T
ENST00000684087.1:c.566C>T ENSP00000506978.1:p.Pro189Leu
ENST00000684700.1:c.566C>T ENSP00000507806.1:p.Pro189Leu
ENST00000506362.2:c.317C>T ENSP00000424103.2:p.Pro106Leu
ENST00000673642.1:c.365C>T ENSP00000501242.1:p.Pro122Leu
ENST00000673991.1:c.566C>T ENSP00000501033.1:p.Pro189Leu
ENST00000674051.1:c.440C>T ENSP00000501083.1:p.Pro147Leu
ENST00000226760.5:c.566C>T MANE Select ENSP00000226760.1:p.Pro189Leu
ENST00000503569.5:c.566C>T ENSP00000423337.1:p.Pro189Leu
ENST00000506362.1:c.163C>T
ENST00000507765.1:n.751C>T
NM_001145853.1:c.566C>T NP_001139325.1:p.Pro189Leu
NM_006005.3:c.566C>T MANE Select NP_005996.2:p.Pro189Leu
XM_017008586.1:c.575C>T XP_016864075.1:p.Pro192Leu