Canonical Allele Identifier: CA324907
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6295145G>A
GRCh37 chr4:g.6296872G>A
Revel Score:
ENST00000503569 0.616
ENST00000226760 (MANE Select) 0.616
gnomAD v2:
4:6296872 G / A
gnomAD v3:
4:6295145 G / A
gnomAD v4:
chr4-6295145-G-A
Joint Max Group AF 0.00084114 (AMR)
Genomes Max Group AF 0.00012856 (AMR)
Exomes Max Group AF 0.00102938 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6295145G>A , CM000666.2:g.6295145G>A GRCh38
NC_000004.11:g.6296872G>A , CM000666.1:g.6296872G>A GRCh37
NC_000004.10:g.6347773G>A NCBI36
NG_011700.1:g.30296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.853G>A ENSP00000507852.1:p.Glu285Lys
ENST00000683395.1:c.794G>A
ENST00000684087.1:c.817G>A ENSP00000506978.1:p.Glu273Lys
ENST00000506362.2:c.568G>A ENSP00000424103.2:p.Glu190Lys
ENST00000673642.1:c.616G>A ENSP00000501242.1:p.Glu206Lys
ENST00000673991.1:c.853G>A ENSP00000501033.1:p.Glu285Lys
ENST00000226760.5:c.817G>A MANE Select ENSP00000226760.1:p.Glu273Lys
ENST00000503569.5:c.817G>A ENSP00000423337.1:p.Glu273Lys
ENST00000506362.1:c.450G>A
ENST00000507765.1:n.1002G>A
ENST00000513395.1:n.375G>A
NM_001145853.1:c.817G>A NP_001139325.1:p.Glu273Lys
NM_006005.3:c.817G>A MANE Select NP_005996.2:p.Glu273Lys
XM_017008586.1:c.826G>A XP_016864075.1:p.Glu276Lys
Search 100 bp 5'
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