Canonical Allele Identifier: CA551140068

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1330522
• ClinVar RCV Id: RCV001811704 ; RCV003772208
• dbSNP Id: rs1370589827
• gnomAD v2: 4-39207172-C-G
• gnomAD v4: 4-39205552-C-G
• MyVariant Identifiers: chr4:g.39207172C>G (hg19) ; chr4:g.39205552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205552C>G , CM000666.2:g.39205552C>G	GRCh38
NC_000004.11:g.39207172C>G , CM000666.1:g.39207172C>G	GRCh37
NC_000004.10:g.38883567C>G	NCBI36
NG_031813.1:g.28149C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000399820.8:c.717-11C>G MANE Select	ENSP00000382717.3:n.717-11C>G
ENST00000399820.7:c.717-11C>G	ENSP00000382717.3:n.717-11C>G
ENST00000503697.5:c.*185-11C>G	ENSP00000423706.1:n.*185-11C>G
ENST00000505055.5:c.*298-11C>G	ENSP00000425949.1:n.*298-11C>G
ENST00000506503.1:c.717-11C>G	ENSP00000423491.1:n.717-11C>G
ENST00000506869.5:c.*298-11C>G	ENSP00000424319.1:n.*298-11C>G
ENST00000511729.5:n.40+22989C>G
ENST00000512448.1:n.311-11C>G
NM_025132.3:c.717-11C>G	NP_079408.3:n.717-11C>G
XM_011513724.1:c.717-11C>G	XP_011512026.1:n.717-11C>G
XM_011513725.1:c.651-11C>G	XP_011512027.1:n.651-11C>G
XM_011513726.1:c.237-11C>G	XP_011512028.1:n.237-11C>G
XM_011513727.1:c.237-11C>G	XP_011512029.1:n.237-11C>G
XM_011513728.1:c.237-11C>G	XP_011512030.1:n.237-11C>G
XM_011513729.1:c.717-11C>G	XP_011512031.1:n.717-11C>G
XR_925155.1:n.781-11C>G
NM_001317924.1:c.237-11C>G	NP_001304853.1:n.237-11C>G
XM_011513725.2:c.651-11C>G	XP_011512027.1:n.651-11C>G
XM_011513726.3:c.237-11C>G	XP_011512028.1:n.237-11C>G
XM_017008501.1:c.237-11C>G	XP_016863990.1:n.237-11C>G
XR_001741306.1:n.781-11C>G
XR_001741307.1:n.781-11C>G
XR_001741308.1:n.781-11C>G
XR_001741309.1:n.781-11C>G
XR_001741310.1:n.781-11C>G
XR_001741311.2:n.630-11C>G
XR_001741312.1:n.781-11C>G
NM_025132.4:c.717-11C>G MANE Select	NP_079408.3:n.717-11C>G
NM_001317924.2:c.237-11C>G	NP_001304853.1:n.237-11C>G