Canonical Allele Identifier: CA2892539

Gene: WDR19

Linked Data

• ClinVar Variation Id: 252748
• ClinVar RCV Id: RCV000239256 ; RCV000877878 ; RCV001150826 ; RCV001144715
• dbSNP Id: rs199546190
• ExAC: 4:39280153 A / C
• gnomAD v2: 4-39280153-A-C
• gnomAD v3: 4-39278533-A-C
• gnomAD v4: 4-39278533-A-C
• MyVariant Identifiers: chr4:g.39280153A>C (hg19) ; chr4:g.39278533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39278533A>C , CM000666.2:g.39278533A>C	GRCh38
NC_000004.11:g.39280153A>C , CM000666.1:g.39280153A>C	GRCh37
NC_000004.10:g.38956548A>C	NCBI36
NG_031813.1:g.101130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3918-6A>C MANE Select	ENSP00000382717.3:n.3918-6A>C
ENST00000399820.7:c.3918-6A>C	ENSP00000382717.3:n.3918-6A>C
ENST00000503733.1:n.273-6A>C
ENST00000506869.5:c.*3499-6A>C	ENSP00000424319.1:n.*3499-6A>C
ENST00000510315.1:n.263A>C
ENST00000512534.5:n.2229-6A>C
ENST00000512588.5:n.260-6A>C
NM_025132.3:c.3918-6A>C	NP_079408.3:n.3918-6A>C
XM_011513724.1:c.3930-6A>C	XP_011512026.1:n.3930-6A>C
XM_011513725.1:c.3864-6A>C	XP_011512027.1:n.3864-6A>C
XM_011513726.1:c.3450-6A>C	XP_011512028.1:n.3450-6A>C
XM_011513727.1:c.3450-6A>C	XP_011512029.1:n.3450-6A>C
XM_011513728.1:c.3438-6A>C	XP_011512030.1:n.3438-6A>C
XR_925155.1:n.5628-6A>C
NM_001317924.1:c.3438-6A>C	NP_001304853.1:n.3438-6A>C
XM_011513725.2:c.3864-6A>C	XP_011512027.1:n.3864-6A>C
XM_011513726.3:c.3450-6A>C	XP_011512028.1:n.3450-6A>C
XM_017008501.1:c.3438-6A>C	XP_016863990.1:n.3438-6A>C
XR_001741306.1:n.4195-6A>C
XR_001741307.1:n.4183-6A>C
XR_001741308.1:n.5829-6A>C
XR_001741309.1:n.5616-6A>C
XR_001741310.1:n.5817-6A>C
XR_001741311.2:n.5465-6A>C
NM_025132.4:c.3918-6A>C MANE Select	NP_079408.3:n.3918-6A>C
NM_001317924.2:c.3438-6A>C	NP_001304853.1:n.3438-6A>C