Canonical Allele Identifier: CA253197
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4520
dbSNP Id: rs28937893
gnomAD v2: 4-6303668-G-A
gnomAD v4: 4-6301941-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301941G>A , CM000666.2:g.6301941G>A GRCh38
NC_000004.11:g.6303668G>A , CM000666.1:g.6303668G>A GRCh37
NC_000004.10:g.6354569G>A NCBI36
NG_011700.1:g.37092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2182G>A ENSP00000507852.1:p.Ala728Thr
ENST00000683395.1:c.2123G>A
ENST00000684087.1:c.2146G>A ENSP00000506978.1:p.Ala716Thr
ENST00000506362.2:c.1897G>A ENSP00000424103.2:p.Ala633Thr
ENST00000673642.1:c.1805G>A ENSP00000501242.1:n.1805G>A
ENST00000673991.1:c.2182G>A ENSP00000501033.1:p.Ala728Thr
ENST00000226760.5:c.2146G>A MANE Select ENSP00000226760.1:p.Ala716Thr
ENST00000503569.5:c.2146G>A ENSP00000423337.1:p.Ala716Thr
ENST00000507765.1:n.2331G>A
NM_001145853.1:c.2146G>A NP_001139325.1:p.Ala716Thr
NM_006005.3:c.2146G>A MANE Select NP_005996.2:p.Ala716Thr
XM_017008586.1:c.2155G>A XP_016864075.1:p.Ala719Thr