Canonical Allele Identifier: CA2839519
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225514
dbSNP Id: rs553336498
gnomAD v2: 4-6303368-G-T
gnomAD v3: 4-6301641-G-T
gnomAD v4: 4-6301641-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301641G>T , CM000666.2:g.6301641G>T GRCh38
NC_000004.11:g.6303368G>T , CM000666.1:g.6303368G>T GRCh37
NC_000004.10:g.6354269G>T NCBI36
NG_011700.1:g.36792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1882G>T ENSP00000507852.1:p.Ala628Ser
ENST00000683395.1:c.1823G>T
ENST00000684087.1:c.1846G>T ENSP00000506978.1:p.Ala616Ser
ENST00000506362.2:c.1597G>T ENSP00000424103.2:p.Ala533Ser
ENST00000673642.1:c.1505G>T ENSP00000501242.1:n.1505G>T
ENST00000673991.1:c.1882G>T ENSP00000501033.1:p.Ala628Ser
ENST00000226760.5:c.1846G>T MANE Select ENSP00000226760.1:p.Ala616Ser
ENST00000503569.5:c.1846G>T ENSP00000423337.1:p.Ala616Ser
ENST00000507765.1:n.2031G>T
NM_001145853.1:c.1846G>T NP_001139325.1:p.Ala616Ser
NM_006005.3:c.1846G>T MANE Select NP_005996.2:p.Ala616Ser
XM_017008586.1:c.1855G>T XP_016864075.1:p.Ala619Ser