Canonical Allele Identifier: CA2892335

Gene: WDR19

Linked Data

• ClinVar Variation Id: 440411
• ClinVar RCV Id: RCV001227801 ; RCV001811019 ; RCV002481645
• dbSNP Id: rs567310076
• ExAC: 4:39269661 G / A
• gnomAD v2: 4-39269661-G-A
• gnomAD v3: 4-39268041-G-A
• gnomAD v4: 4-39268041-G-A
• MyVariant Identifiers: chr4:g.39269661G>A (hg19) ; chr4:g.39268041G>A (hg38)

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