Canonical Allele Identifier: CA356179170
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302335G>A
GRCh37 chr4:g.6304062G>A
Revel Score:
ENST00000503569 0.942
ENST00000226760 (MANE Select) 0.942
ENST00000540337 0.942
gnomAD v2:
4:6304062 G / A
gnomAD v3:
4:6302335 G / A
gnomAD v4:
chr4-6302335-G-A
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar Allele:
430979
ClinVar RCV:
RCV000500223
RCV000519327
RCV003147488
ClinVar Variation:
437421
dbSNP:
1394576939
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302335G>A , CM000666.2:g.6302335G>A GRCh38
NC_000004.11:g.6304062G>A , CM000666.1:g.6304062G>A GRCh37
NC_000004.10:g.6354963G>A NCBI36
NG_011700.1:g.37486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2576G>A ENSP00000507852.1:p.Cys859Tyr
ENST00000683395.1:c.2517G>A
ENST00000684087.1:c.2540G>A ENSP00000506978.1:p.Cys847Tyr
ENST00000506362.2:c.2291G>A ENSP00000424103.2:p.Cys764Tyr
ENST00000673991.1:c.2576G>A ENSP00000501033.1:p.Cys859Tyr
ENST00000226760.5:c.2540G>A MANE Select ENSP00000226760.1:p.Cys847Tyr
ENST00000503569.5:c.2540G>A ENSP00000423337.1:p.Cys847Tyr
ENST00000507765.1:n.2725G>A
NM_001145853.1:c.2540G>A NP_001139325.1:p.Cys847Tyr
NM_006005.3:c.2540G>A MANE Select NP_005996.2:p.Cys847Tyr
XM_017008586.1:c.2549G>A XP_016864075.1:p.Cys850Tyr
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