Canonical Allele Identifier: CA2839183
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6300786T>A
GRCh37 chr4:g.6302513T>A
Revel Score:
ENST00000503569 0.807
ENST00000226760 (MANE Select) 0.807
gnomAD v2:
4:6302513 T / A
gnomAD v3:
4:6300786 T / A
gnomAD v4:
chr4-6300786-T-A
Joint Max Group AF 0.00027565 (AMR)
Genomes Max Group AF 0.00002263 (AMR)
Exomes Max Group AF 0.0003326 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300786T>A , CM000666.2:g.6300786T>A GRCh38
NC_000004.11:g.6302513T>A , CM000666.1:g.6302513T>A GRCh37
NC_000004.10:g.6353414T>A NCBI36
NG_011700.1:g.35937T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1027T>A ENSP00000507852.1:p.Phe343Ile
ENST00000683395.1:c.968T>A
ENST00000684087.1:c.991T>A ENSP00000506978.1:p.Phe331Ile
ENST00000506362.2:c.742T>A ENSP00000424103.2:p.Phe248Ile
ENST00000673642.1:c.661-11T>A ENSP00000501242.1:n.661-11T>A
ENST00000673991.1:c.1027T>A ENSP00000501033.1:p.Phe343Ile
ENST00000226760.5:c.991T>A MANE Select ENSP00000226760.1:p.Phe331Ile
ENST00000503569.5:c.991T>A ENSP00000423337.1:p.Phe331Ile
ENST00000506362.1:c.624T>A
ENST00000507765.1:n.1176T>A
ENST00000513395.1:n.549T>A
NM_001145853.1:c.991T>A NP_001139325.1:p.Phe331Ile
NM_006005.3:c.991T>A MANE Select NP_005996.2:p.Phe331Ile
XM_017008586.1:c.1000T>A XP_016864075.1:p.Phe334Ile
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