Canonical Allele Identifier: CA2892088

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1015081
• ClinVar RCV Id: RCV001313901 ; RCV002476453
• dbSNP Id: rs138364911
• ExAC: 4:39245910 A / G
• gnomAD v2: 4-39245910-A-G
• gnomAD v3: 4-39244290-A-G
• gnomAD v4: 4-39244290-A-G
• MyVariant Identifiers: chr4:g.39245910A>G (hg19) ; chr4:g.39244290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244290A>G , CM000666.2:g.39244290A>G	GRCh38
NC_000004.11:g.39245910A>G , CM000666.1:g.39245910A>G	GRCh37
NC_000004.10:g.38922305A>G	NCBI36
NG_031813.1:g.66887A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.2464A>G MANE Select	ENSP00000382717.3:p.Ile822Val
ENST00000399820.7:c.2464A>G	ENSP00000382717.3:p.Ile822Val
ENST00000506869.5:c.*2045A>G	ENSP00000424319.1:n.*2045A>G
ENST00000512095.5:n.1462A>G
NM_025132.3:c.2464A>G	NP_079408.3:p.Ile822Val
XM_011513724.1:c.2476A>G	XP_011512026.1:p.Ile826Val
XM_011513725.1:c.2410A>G	XP_011512027.1:p.Ile804Val
XM_011513726.1:c.1996A>G	XP_011512028.1:p.Ile666Val
XM_011513727.1:c.1996A>G	XP_011512029.1:p.Ile666Val
XM_011513728.1:c.1984A>G	XP_011512030.1:p.Ile662Val
XM_011513729.1:c.2476A>G	XP_011512031.1:p.Ile826Val
XR_925155.1:n.2540A>G
NM_001317924.1:c.1984A>G	NP_001304853.1:p.Ile662Val
XM_011513725.2:c.2410A>G	XP_011512027.1:p.Ile804Val
XM_011513726.3:c.1996A>G	XP_011512028.1:p.Ile666Val
XM_017008501.1:c.1984A>G	XP_016863990.1:p.Ile662Val
XR_001741306.1:n.2540A>G
XR_001741307.1:n.2528A>G
XR_001741308.1:n.2540A>G
XR_001741309.1:n.2528A>G
XR_001741310.1:n.2528A>G
XR_001741311.2:n.2377A>G
NM_025132.4:c.2464A>G MANE Select	NP_079408.3:p.Ile822Val
NM_001317924.2:c.1984A>G	NP_001304853.1:p.Ile662Val