Canonical Allele Identifier: CA151414

Gene: WDR19

Linked Data

• ClinVar Variation Id: 127159
• ClinVar RCV Id: RCV000115015 ; RCV000516054 ; RCV000681868 ; RCV001212609 ; RCV001797626 ; RCV002277157
• dbSNP Id: rs587777352
• ExAC: 4:39274682 G / A
• gnomAD v2: 4-39274682-G-A
• gnomAD v3: 4-39273062-G-A
• gnomAD v4: 4-39273062-G-A
• MyVariant Identifiers: chr4:g.39274682G>A (hg19) ; chr4:g.39273062G>A (hg38)
• PubMed: PMID:23559409 ; PMID:29068549

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39273062G>A , CM000666.2:g.39273062G>A	GRCh38
NC_000004.11:g.39274682G>A , CM000666.1:g.39274682G>A	GRCh37
NC_000004.10:g.38951077G>A	NCBI36
NG_031813.1:g.95659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3565+1G>A MANE Select	ENSP00000382717.3:n.3565+1G>A
ENST00000399820.7:c.3565+1G>A	ENSP00000382717.3:n.3565+1G>A
ENST00000506869.5:c.*3146+1G>A	ENSP00000424319.1:n.*3146+1G>A
ENST00000512095.5:n.2563+1G>A
ENST00000512534.5:n.131G>A
NM_025132.3:c.3565+1G>A	NP_079408.3:n.3565+1G>A
XM_011513724.1:c.3577+1G>A	XP_011512026.1:n.3577+1G>A
XM_011513725.1:c.3511+1G>A	XP_011512027.1:n.3511+1G>A
XM_011513726.1:c.3097+1G>A	XP_011512028.1:n.3097+1G>A
XM_011513727.1:c.3097+1G>A	XP_011512029.1:n.3097+1G>A
XM_011513728.1:c.3085+1G>A	XP_011512030.1:n.3085+1G>A
XR_925155.1:n.3641+1G>A
NM_001317924.1:c.3085+1G>A	NP_001304853.1:n.3085+1G>A
XM_011513725.2:c.3511+1G>A	XP_011512027.1:n.3511+1G>A
XM_011513726.3:c.3097+1G>A	XP_011512028.1:n.3097+1G>A
XM_017008501.1:c.3085+1G>A	XP_016863990.1:n.3085+1G>A
XR_001741306.1:n.3641+1G>A
XR_001741307.1:n.3629+1G>A
XR_001741308.1:n.3641+1G>A
XR_001741309.1:n.3629+1G>A
XR_001741310.1:n.3629+1G>A
XR_001741311.2:n.3478+1G>A
NM_025132.4:c.3565+1G>A MANE Select	NP_079408.3:n.3565+1G>A
NM_001317924.2:c.3085+1G>A	NP_001304853.1:n.3085+1G>A