Canonical Allele Identifier: CA324220
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302398G>A
GRCh37 chr4:g.6304125G>A
Revel Score:
ENST00000503569 0.877
ENST00000226760 (MANE Select) 0.877
ENST00000540337 0.877
gnomAD v2:
4:6304125 G / A
gnomAD v3:
4:6302398 G / A
gnomAD v4:
chr4-6302398-G-A
Joint Max Group AF 0.00013603 (SAS)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00014346 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302398G>A , CM000666.2:g.6302398G>A GRCh38
NC_000004.11:g.6304125G>A , CM000666.1:g.6304125G>A GRCh37
NC_000004.10:g.6355026G>A NCBI36
NG_011700.1:g.37549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2639G>A ENSP00000507852.1:p.Arg880His
ENST00000683395.1:c.2580G>A
ENST00000684087.1:c.2603G>A ENSP00000506978.1:p.Arg868His
ENST00000506362.2:c.2354G>A ENSP00000424103.2:p.Arg785His
ENST00000673991.1:c.2639G>A ENSP00000501033.1:p.Arg880His
ENST00000226760.5:c.2603G>A MANE Select ENSP00000226760.1:p.Arg868His
ENST00000503569.5:c.2603G>A ENSP00000423337.1:p.Arg868His
ENST00000507765.1:n.2788G>A
NM_001145853.1:c.2603G>A NP_001139325.1:p.Arg868His
NM_006005.3:c.2603G>A MANE Select NP_005996.2:p.Arg868His
XM_017008586.1:c.2612G>A XP_016864075.1:p.Arg871His
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