Canonical Allele Identifier: CA182744
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302391G>A
GRCh37 chr4:g.6304118G>A
Revel Score:
ENST00000503569 0.473
ENST00000226760 (MANE Select) 0.473
ENST00000540337 0.473
gnomAD v2:
4:6304118 G / A
gnomAD v3:
4:6302391 G / A
gnomAD v4:
chr4-6302391-G-A
Joint Max Group AF 0.01703692 (EAS)
Genomes Max Group AF 0.01692595 (EAS)
Exomes Max Group AF 0.01672163 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302391G>A , CM000666.2:g.6302391G>A GRCh38
NC_000004.11:g.6304118G>A , CM000666.1:g.6304118G>A GRCh37
NC_000004.10:g.6355019G>A NCBI36
NG_011700.1:g.37542G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2632G>A ENSP00000507852.1:p.Asp878Asn
ENST00000683395.1:c.2573G>A
ENST00000684087.1:c.2596G>A ENSP00000506978.1:p.Asp866Asn
ENST00000506362.2:c.2347G>A ENSP00000424103.2:p.Asp783Asn
ENST00000673991.1:c.2632G>A ENSP00000501033.1:p.Asp878Asn
ENST00000226760.5:c.2596G>A MANE Select ENSP00000226760.1:p.Asp866Asn
ENST00000503569.5:c.2596G>A ENSP00000423337.1:p.Asp866Asn
ENST00000507765.1:n.2781G>A
NM_001145853.1:c.2596G>A NP_001139325.1:p.Asp866Asn
NM_006005.3:c.2596G>A MANE Select NP_005996.2:p.Asp866Asn
XM_017008586.1:c.2605G>A XP_016864075.1:p.Asp869Asn
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