Canonical Allele Identifier: CA2892129

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1389139
• ClinVar RCV Id: RCV001887010 ; RCV003434343
• dbSNP Id: rs770091572
• ExAC: 4:39246159 C / T
• gnomAD v2: 4-39246159-C-T
• gnomAD v3: 4-39244539-C-T
• gnomAD v4: 4-39244539-C-T
• MyVariant Identifiers: chr4:g.39246159C>T (hg19) ; chr4:g.39244539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244539C>T , CM000666.2:g.39244539C>T	GRCh38
NC_000004.11:g.39246159C>T , CM000666.1:g.39246159C>T	GRCh37
NC_000004.10:g.38922554C>T	NCBI36
NG_031813.1:g.67136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2632C>T MANE Select	ENSP00000382717.3:p.Arg878Cys
ENST00000399820.7:c.2632C>T	ENSP00000382717.3:p.Arg878Cys
ENST00000506869.5:c.*2213C>T	ENSP00000424319.1:n.*2213C>T
ENST00000512095.5:n.1630C>T
NM_025132.3:c.2632C>T	NP_079408.3:p.Arg878Cys
XM_011513724.1:c.2644C>T	XP_011512026.1:p.Arg882Cys
XM_011513725.1:c.2578C>T	XP_011512027.1:p.Arg860Cys
XM_011513726.1:c.2164C>T	XP_011512028.1:p.Arg722Cys
XM_011513727.1:c.2164C>T	XP_011512029.1:p.Arg722Cys
XM_011513728.1:c.2152C>T	XP_011512030.1:p.Arg718Cys
XM_011513729.1:c.2644C>T	XP_011512031.1:p.Arg882Cys
XR_925155.1:n.2708C>T
NM_001317924.1:c.2152C>T	NP_001304853.1:p.Arg718Cys
XM_011513725.2:c.2578C>T	XP_011512027.1:p.Arg860Cys
XM_011513726.3:c.2164C>T	XP_011512028.1:p.Arg722Cys
XM_017008501.1:c.2152C>T	XP_016863990.1:p.Arg718Cys
XR_001741306.1:n.2708C>T
XR_001741307.1:n.2696C>T
XR_001741308.1:n.2708C>T
XR_001741309.1:n.2696C>T
XR_001741310.1:n.2696C>T
XR_001741311.2:n.2545C>T
NM_025132.4:c.2632C>T MANE Select	NP_079408.3:p.Arg878Cys
NM_001317924.2:c.2152C>T	NP_001304853.1:p.Arg718Cys