Canonical Allele Identifier: CA2892335
Gene: WDR19 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.39268041G>A
GRCh37 chr4:g.39269661G>A
Revel Score:
ENST00000399820 (MANE Select) 0.082
ENST00000288634 0.082
gnomAD v2:
4:39269661 G / A
gnomAD v3:
4:39268041 G / A
gnomAD v4:
chr4-39268041-G-A
Joint Max Group AF 0.00061475 (AFR)
Genomes Max Group AF 0.00045903 (AFR)
Exomes Max Group AF 0.00067322 (AFR)
ClinVar Allele:
434039
ClinVar RCV:
RCV001227801
RCV001811019
RCV002481645
ClinVar Variation:
440411
dbSNP:
567310076
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39268041G>A , CM000666.2:g.39268041G>A GRCh38
NC_000004.11:g.39269661G>A , CM000666.1:g.39269661G>A GRCh37
NC_000004.10:g.38946056G>A NCBI36
NG_031813.1:g.90638G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.3308G>A MANE Select ENSP00000382717.3:p.Arg1103Gln
ENST00000399820.7:c.3308G>A ENSP00000382717.3:p.Arg1103Gln
ENST00000506869.5:c.*2889G>A ENSP00000424319.1:n.*2889G>A
ENST00000512095.5:n.2306G>A
NM_025132.3:c.3308G>A NP_079408.3:p.Arg1103Gln
XM_011513724.1:c.3320G>A XP_011512026.1:p.Arg1107Gln
XM_011513725.1:c.3254G>A XP_011512027.1:p.Arg1085Gln
XM_011513726.1:c.2840G>A XP_011512028.1:p.Arg947Gln
XM_011513727.1:c.2840G>A XP_011512029.1:p.Arg947Gln
XM_011513728.1:c.2828G>A XP_011512030.1:p.Arg943Gln
XR_925155.1:n.3384G>A
NM_001317924.1:c.2828G>A NP_001304853.1:p.Arg943Gln
XM_011513725.2:c.3254G>A XP_011512027.1:p.Arg1085Gln
XM_011513726.3:c.2840G>A XP_011512028.1:p.Arg947Gln
XM_017008501.1:c.2828G>A XP_016863990.1:p.Arg943Gln
XR_001741306.1:n.3384G>A
XR_001741307.1:n.3372G>A
XR_001741308.1:n.3384G>A
XR_001741309.1:n.3372G>A
XR_001741310.1:n.3372G>A
XR_001741311.2:n.3221G>A
NM_025132.4:c.3308G>A MANE Select NP_079408.3:p.Arg1103Gln
NM_001317924.2:c.2828G>A NP_001304853.1:p.Arg943Gln
Search 100 bp 5'
Search 100 bp 3'