Canonical Allele Identifier: CA2838919
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1422348
ClinVar RCV Id: RCV001919492
dbSNP Id: rs755176736
gnomAD v2: 4-6292944-C-T
gnomAD v4: 4-6291217-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291217C>T , CM000666.2:g.6291217C>T GRCh38
NC_000004.11:g.6292944C>T , CM000666.1:g.6292944C>T GRCh37
NC_000004.10:g.6343845C>T NCBI36
NG_011700.1:g.26368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.481C>T ENSP00000507852.1:p.Arg161Trp
ENST00000683395.1:c.471C>T
ENST00000684087.1:c.481C>T ENSP00000506978.1:p.Arg161Trp
ENST00000684700.1:c.481C>T ENSP00000507806.1:p.Arg161Trp
ENST00000506362.2:c.232C>T ENSP00000424103.2:p.Arg78Trp
ENST00000673642.1:c.280C>T ENSP00000501242.1:p.Arg94Trp
ENST00000673991.1:c.481C>T ENSP00000501033.1:p.Arg161Trp
ENST00000674051.1:c.355C>T ENSP00000501083.1:p.Arg119Trp
ENST00000226760.5:c.481C>T MANE Select ENSP00000226760.1:p.Arg161Trp
ENST00000503569.5:c.481C>T ENSP00000423337.1:p.Arg161Trp
ENST00000506362.1:c.78C>T
ENST00000507765.1:n.666C>T
NM_001145853.1:c.481C>T NP_001139325.1:p.Arg161Trp
NM_006005.3:c.481C>T MANE Select NP_005996.2:p.Arg161Trp
XM_017008586.1:c.490C>T XP_016864075.1:p.Arg164Trp