Canonical Allele Identifier: CA2892063

Gene: WDR19

Linked Data

• ClinVar Variation Id: 348742
• ClinVar RCV Id: RCV000266893 ; RCV000324388 ; RCV001429588
• dbSNP Id: rs771036360
• ExAC: 4:39241882 T / C
• gnomAD v2: 4-39241882-T-C
• gnomAD v3: 4-39240262-T-C
• gnomAD v4: 4-39240262-T-C
• MyVariant Identifiers: chr4:g.39241882T>C (hg19) ; chr4:g.39240262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39240262T>C , CM000666.2:g.39240262T>C	GRCh38
NC_000004.11:g.39241882T>C , CM000666.1:g.39241882T>C	GRCh37
NC_000004.10:g.38918277T>C	NCBI36
NG_031813.1:g.62859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2364-15T>C MANE Select	ENSP00000382717.3:n.2364-15T>C
ENST00000399820.7:c.2364-15T>C	ENSP00000382717.3:n.2364-15T>C
ENST00000506869.5:c.*1945-15T>C	ENSP00000424319.1:n.*1945-15T>C
ENST00000507228.1:c.514-15T>C
ENST00000512095.5:n.1362-15T>C
NM_025132.3:c.2364-15T>C	NP_079408.3:n.2364-15T>C
XM_011513724.1:c.2376-15T>C	XP_011512026.1:n.2376-15T>C
XM_011513725.1:c.2310-15T>C	XP_011512027.1:n.2310-15T>C
XM_011513726.1:c.1896-15T>C	XP_011512028.1:n.1896-15T>C
XM_011513727.1:c.1896-15T>C	XP_011512029.1:n.1896-15T>C
XM_011513728.1:c.1884-15T>C	XP_011512030.1:n.1884-15T>C
XM_011513729.1:c.2376-15T>C	XP_011512031.1:n.2376-15T>C
XR_925155.1:n.2440-15T>C
NM_001317924.1:c.1884-15T>C	NP_001304853.1:n.1884-15T>C
XM_011513725.2:c.2310-15T>C	XP_011512027.1:n.2310-15T>C
XM_011513726.3:c.1896-15T>C	XP_011512028.1:n.1896-15T>C
XM_017008501.1:c.1884-15T>C	XP_016863990.1:n.1884-15T>C
XR_001741306.1:n.2440-15T>C
XR_001741307.1:n.2428-15T>C
XR_001741308.1:n.2440-15T>C
XR_001741309.1:n.2428-15T>C
XR_001741310.1:n.2428-15T>C
XR_001741311.2:n.2277-15T>C
XR_001741312.1:n.2464-15T>C
NM_025132.4:c.2364-15T>C MANE Select	NP_079408.3:n.2364-15T>C
NM_001317924.2:c.1884-15T>C	NP_001304853.1:n.1884-15T>C