Canonical Allele Identifier: CA321089
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6291241G>A
GRCh37 chr4:g.6292968G>A
Revel Score:
ENST00000503569 0.838
ENST00000226760 (MANE Select) 0.838
gnomAD v2:
4:6292968 G / A
gnomAD v3:
4:6291241 G / A
gnomAD v4:
chr4-6291241-G-A
Joint Max Group AF 0.00004781 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00004612 (NFE)
ClinVar RCV:
RCV000196664
RCV004530178
ClinVar Variation:
215376
dbSNP:
148953711
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291241G>A , CM000666.2:g.6291241G>A GRCh38
NC_000004.11:g.6292968G>A , CM000666.1:g.6292968G>A GRCh37
NC_000004.10:g.6343869G>A NCBI36
NG_011700.1:g.26392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.505G>A ENSP00000507852.1:p.Glu169Lys
ENST00000683395.1:c.495G>A
ENST00000684087.1:c.505G>A ENSP00000506978.1:p.Glu169Lys
ENST00000684700.1:c.505G>A ENSP00000507806.1:p.Glu169Lys
ENST00000506362.2:c.256G>A ENSP00000424103.2:p.Glu86Lys
ENST00000673642.1:c.304G>A ENSP00000501242.1:p.Glu102Lys
ENST00000673991.1:c.505G>A ENSP00000501033.1:p.Glu169Lys
ENST00000674051.1:c.379G>A ENSP00000501083.1:p.Glu127Lys
ENST00000226760.5:c.505G>A MANE Select ENSP00000226760.1:p.Glu169Lys
ENST00000503569.5:c.505G>A ENSP00000423337.1:p.Glu169Lys
ENST00000506362.1:c.102G>A
ENST00000507765.1:n.690G>A
NM_001145853.1:c.505G>A NP_001139325.1:p.Glu169Lys
NM_006005.3:c.505G>A MANE Select NP_005996.2:p.Glu169Lys
XM_017008586.1:c.514G>A XP_016864075.1:p.Glu172Lys
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