Canonical Allele Identifier: CA2838994
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1078282
ClinVar RCV Id: RCV001393184
dbSNP Id: rs199620178
gnomAD v2: 4-6293703-G-A
gnomAD v3: 4-6291976-G-A
gnomAD v4: 4-6291976-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291976G>A , CM000666.2:g.6291976G>A GRCh38
NC_000004.11:g.6293703G>A , CM000666.1:g.6293703G>A GRCh37
NC_000004.10:g.6344604G>A NCBI36
NG_011700.1:g.27127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.691G>A ENSP00000507852.1:p.Glu231Lys
ENST00000683395.1:c.668G>A
ENST00000684087.1:c.691G>A ENSP00000506978.1:p.Glu231Lys
ENST00000506362.2:c.442G>A ENSP00000424103.2:p.Glu148Lys
ENST00000673642.1:c.490G>A ENSP00000501242.1:p.Glu164Lys
ENST00000673991.1:c.691G>A ENSP00000501033.1:p.Glu231Lys
ENST00000226760.5:c.691G>A MANE Select ENSP00000226760.1:p.Glu231Lys
ENST00000503569.5:c.691G>A ENSP00000423337.1:p.Glu231Lys
ENST00000506362.1:c.288G>A
ENST00000507765.1:n.876G>A
NM_001145853.1:c.691G>A NP_001139325.1:p.Glu231Lys
NM_006005.3:c.691G>A MANE Select NP_005996.2:p.Glu231Lys
XM_017008586.1:c.700G>A XP_016864075.1:p.Glu234Lys