Canonical Allele Identifier: CA2891711

Gene: WDR19

Linked Data

• ClinVar Variation Id: 2147128
• ClinVar RCV Id: RCV003077030
• dbSNP Id: rs552334665
• ExAC: 4:39207281 G / A
• gnomAD v2: 4-39207281-G-A
• gnomAD v3: 4-39205661-G-A
• gnomAD v4: 4-39205661-G-A
• COSMIC: COSM3765133
• MyVariant Identifiers: chr4:g.39207281G>A (hg19) ; chr4:g.39205661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205661G>A , CM000666.2:g.39205661G>A	GRCh38
NC_000004.11:g.39207281G>A , CM000666.1:g.39207281G>A	GRCh37
NC_000004.10:g.38883676G>A	NCBI36
NG_031813.1:g.28258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.815G>A MANE Select	ENSP00000382717.3:p.Arg272His
ENST00000399820.7:c.815G>A	ENSP00000382717.3:p.Arg272His
ENST00000503697.5:c.*283G>A	ENSP00000423706.1:n.*283G>A
ENST00000506503.1:c.815G>A	ENSP00000423491.1:p.Arg272His
ENST00000506869.5:c.*396G>A	ENSP00000424319.1:n.*396G>A
ENST00000511729.5:n.41-22897G>A
ENST00000512448.1:n.409G>A
NM_025132.3:c.815G>A	NP_079408.3:p.Arg272His
XM_011513724.1:c.815G>A	XP_011512026.1:p.Arg272His
XM_011513725.1:c.749G>A	XP_011512027.1:p.Arg250His
XM_011513726.1:c.335G>A	XP_011512028.1:p.Arg112His
XM_011513727.1:c.335G>A	XP_011512029.1:p.Arg112His
XM_011513728.1:c.335G>A	XP_011512030.1:p.Arg112His
XM_011513729.1:c.815G>A	XP_011512031.1:p.Arg272His
XR_925155.1:n.879G>A
NM_001317924.1:c.335G>A	NP_001304853.1:p.Arg112His
XM_011513725.2:c.749G>A	XP_011512027.1:p.Arg250His
XM_011513726.3:c.335G>A	XP_011512028.1:p.Arg112His
XM_017008501.1:c.335G>A	XP_016863990.1:p.Arg112His
XR_001741306.1:n.879G>A
XR_001741307.1:n.879G>A
XR_001741308.1:n.879G>A
XR_001741309.1:n.879G>A
XR_001741310.1:n.879G>A
XR_001741311.2:n.728G>A
XR_001741312.1:n.879G>A
NM_025132.4:c.815G>A MANE Select	NP_079408.3:p.Arg272His
NM_001317924.2:c.335G>A	NP_001304853.1:p.Arg112His