Canonical Allele Identifier: CA2838811
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 516852
dbSNP Id: rs369671890

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277628C>T , CM000666.2:g.6277628C>T GRCh38
NC_000004.11:g.6279355C>T , CM000666.1:g.6279355C>T GRCh37
NC_000004.10:g.6330256C>T NCBI36
NG_011700.1:g.12779C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000506362.2:c.-18+7614C>T ENSP00000424103.2:p.=
ENST00000673991.1:c.173C>T ENSP00000501033.1:p.Ala58Val
ENST00000674051.1:c.67-20C>T ENSP00000501083.1:p.=
ENST00000226760.5:c.173C>T MANE Select ENSP00000226760.1:p.Ala58Val
ENST00000503569.5:c.173C>T ENSP00000423337.1:p.Ala58Val
ENST00000506588.5:n.343C>T
NM_001145853.1:c.173C>T NP_001139325.1:p.Ala58Val
NM_006005.3:c.173C>T MANE Select NP_005996.2:p.Ala58Val
XM_017008586.1:c.182C>T XP_016864075.1:p.Ala61Val