Canonical Allele Identifier: CA321852
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6301815G>A
GRCh37 chr4:g.6303542G>A
Revel Score:
ENST00000503569 0.944
ENST00000226760 (MANE Select) 0.944
ENST00000540337 0.944
gnomAD v2:
4:6303542 G / A
gnomAD v3:
4:6301815 G / A
gnomAD v4:
chr4-6301815-G-A
Joint Max Group AF 0.00043016 (MID)
Genomes Max Group AF 0.0001587 (NFE)
Exomes Max Group AF 0.00045291 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301815G>A , CM000666.2:g.6301815G>A GRCh38
NC_000004.11:g.6303542G>A , CM000666.1:g.6303542G>A GRCh37
NC_000004.10:g.6354443G>A NCBI36
NG_011700.1:g.36966G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2056G>A ENSP00000507852.1:p.Gly686Arg
ENST00000683395.1:c.1997G>A
ENST00000684087.1:c.2020G>A ENSP00000506978.1:p.Gly674Arg
ENST00000506362.2:c.1771G>A ENSP00000424103.2:p.Gly591Arg
ENST00000673642.1:c.1679G>A ENSP00000501242.1:n.1679G>A
ENST00000673991.1:c.2056G>A ENSP00000501033.1:p.Gly686Arg
ENST00000226760.5:c.2020G>A MANE Select ENSP00000226760.1:p.Gly674Arg
ENST00000503569.5:c.2020G>A ENSP00000423337.1:p.Gly674Arg
ENST00000507765.1:n.2205G>A
NM_001145853.1:c.2020G>A NP_001139325.1:p.Gly674Arg
NM_006005.3:c.2020G>A MANE Select NP_005996.2:p.Gly674Arg
XM_017008586.1:c.2029G>A XP_016864075.1:p.Gly677Arg
Search 100 bp 5'
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