Canonical Allele Identifier: CA2838961
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 227153
dbSNP Id: rs183980454
gnomAD v2: 4-6293106-C-T
gnomAD v3: 4-6291379-C-T
gnomAD v4: 4-6291379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291379C>T , CM000666.2:g.6291379C>T GRCh38
NC_000004.11:g.6293106C>T , CM000666.1:g.6293106C>T GRCh37
NC_000004.10:g.6344007C>T NCBI36
NG_011700.1:g.26530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+12C>T ENSP00000507852.1:n.631+12C>T
ENST00000683395.1:c.608+25C>T
ENST00000684087.1:c.631+12C>T ENSP00000506978.1:n.631+12C>T
ENST00000684700.1:c.643C>T ENSP00000507806.1:p.His215Tyr
ENST00000506362.2:c.382+12C>T ENSP00000424103.2:n.382+12C>T
ENST00000673642.1:c.430+12C>T ENSP00000501242.1:n.430+12C>T
ENST00000673991.1:c.631+12C>T ENSP00000501033.1:n.631+12C>T
ENST00000226760.5:c.631+12C>T MANE Select ENSP00000226760.1:n.631+12C>T
ENST00000503569.5:c.631+12C>T ENSP00000423337.1:n.631+12C>T
ENST00000506362.1:c.228+12C>T
ENST00000507765.1:n.816+12C>T
NM_001145853.1:c.631+12C>T NP_001139325.1:n.631+12C>T
NM_006005.3:c.631+12C>T MANE Select NP_005996.2:n.631+12C>T
XM_017008586.1:c.640+12C>T XP_016864075.1:n.640+12C>T