Canonical Allele Identifier: CA2891656

Gene: WDR19

Linked Data

• ClinVar Variation Id: 348725
• ClinVar RCV Id: RCV000308025 ; RCV000344185 ; RCV000531768 ; RCV001700077 ; RCV004544650
• dbSNP Id: rs747603843
• ExAC: 4:39205259 T / C
• gnomAD v2: 4-39205259-T-C
• gnomAD v3: 4-39203639-T-C
• gnomAD v4: 4-39203639-T-C
• MyVariant Identifiers: chr4:g.39205259T>C (hg19) ; chr4:g.39203639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39203639T>C , CM000666.2:g.39203639T>C	GRCh38
NC_000004.11:g.39205259T>C , CM000666.1:g.39205259T>C	GRCh37
NC_000004.10:g.38881654T>C	NCBI36
NG_031813.1:g.26236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.523-3T>C MANE Select	ENSP00000382717.3:n.523-3T>C
ENST00000399820.7:c.523-3T>C	ENSP00000382717.3:n.523-3T>C
ENST00000503697.5:c.291-3T>C	ENSP00000423706.1:n.291-3T>C
ENST00000505055.5:c.*104-3T>C	ENSP00000425949.1:n.*104-3T>C
ENST00000506503.1:c.523-3T>C	ENSP00000423491.1:n.523-3T>C
ENST00000506869.5:c.*104-3T>C	ENSP00000424319.1:n.*104-3T>C
ENST00000509560.5:c.346-3T>C	ENSP00000426918.1:n.346-3T>C
ENST00000511729.5:n.40+21076T>C
ENST00000512112.5:c.43-3T>C	ENSP00000421888.1:n.43-3T>C
ENST00000512448.1:n.117-3T>C
NM_025132.3:c.523-3T>C	NP_079408.3:n.523-3T>C
XM_011513724.1:c.523-3T>C	XP_011512026.1:n.523-3T>C
XM_011513725.1:c.457-3T>C	XP_011512027.1:n.457-3T>C
XM_011513726.1:c.43-3T>C	XP_011512028.1:n.43-3T>C
XM_011513727.1:c.43-3T>C	XP_011512029.1:n.43-3T>C
XM_011513728.1:c.43-3T>C	XP_011512030.1:n.43-3T>C
XM_011513729.1:c.523-3T>C	XP_011512031.1:n.523-3T>C
XR_925155.1:n.587-3T>C
NM_001317924.1:c.43-3T>C	NP_001304853.1:n.43-3T>C
XM_011513725.2:c.457-3T>C	XP_011512027.1:n.457-3T>C
XM_011513726.3:c.43-3T>C	XP_011512028.1:n.43-3T>C
XM_017008501.1:c.43-3T>C	XP_016863990.1:n.43-3T>C
XR_001741306.1:n.587-3T>C
XR_001741307.1:n.587-3T>C
XR_001741308.1:n.587-3T>C
XR_001741309.1:n.587-3T>C
XR_001741310.1:n.587-3T>C
XR_001741311.2:n.436-3T>C
XR_001741312.1:n.587-3T>C
NM_025132.4:c.523-3T>C MANE Select	NP_079408.3:n.523-3T>C
NM_001317924.2:c.43-3T>C	NP_001304853.1:n.43-3T>C