Canonical Allele Identifier: CA282582
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302117G>A
GRCh37 chr4:g.6303844G>A
gnomAD v2:
4:6303844 G / A
gnomAD v3:
4:6302117 G / A
gnomAD v4:
chr4-6302117-G-A
Joint Max Group AF 0.11734524 (MID)
Genomes Max Group AF 0.10320796 (SAS)
Exomes Max Group AF 0.11710554 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302117G>A , CM000666.2:g.6302117G>A GRCh38
NC_000004.11:g.6303844G>A , CM000666.1:g.6303844G>A GRCh37
NC_000004.10:g.6354745G>A NCBI36
NG_011700.1:g.37268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2358G>A ENSP00000507852.1:p.Lys786=
ENST00000683395.1:c.2299G>A
ENST00000684087.1:c.2322G>A ENSP00000506978.1:p.Lys774=
ENST00000506362.2:c.2073G>A ENSP00000424103.2:p.Lys691=
ENST00000673642.1:c.1981G>A ENSP00000501242.1:n.1981G>A
ENST00000673991.1:c.2358G>A ENSP00000501033.1:p.Lys786=
ENST00000226760.5:c.2322G>A MANE Select ENSP00000226760.1:p.Lys774=
ENST00000503569.5:c.2322G>A ENSP00000423337.1:p.Lys774=
ENST00000507765.1:n.2507G>A
NM_001145853.1:c.2322G>A NP_001139325.1:p.Lys774=
NM_006005.3:c.2322G>A MANE Select NP_005996.2:p.Lys774=
XM_017008586.1:c.2331G>A XP_016864075.1:p.Lys777=
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