Canonical Allele Identifier: CA2892303

Gene: WDR19

Linked Data

• ClinVar Variation Id: 348747
• ClinVar RCV Id: RCV000289800 ; RCV001699383 ; RCV001519086 ; RCV000347138 ; RCV001726139 ; RCV002278579
• dbSNP Id: rs371128500
• ExAC: 4:39267748 T / C
• gnomAD v2: 4-39267748-T-C
• gnomAD v3: 4-39266128-T-C
• gnomAD v4: 4-39266128-T-C
• MyVariant Identifiers: chr4:g.39267748T>C (hg19) ; chr4:g.39266128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39266128T>C , CM000666.2:g.39266128T>C	GRCh38
NC_000004.11:g.39267748T>C , CM000666.1:g.39267748T>C	GRCh37
NC_000004.10:g.38944143T>C	NCBI36
NG_031813.1:g.88725T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3249T>C MANE Select	ENSP00000382717.3:p.Asp1083=
ENST00000399820.7:c.3249T>C	ENSP00000382717.3:p.Asp1083=
ENST00000506869.5:c.*2830T>C	ENSP00000424319.1:n.*2830T>C
ENST00000512095.5:n.2247T>C
NM_025132.3:c.3249T>C	NP_079408.3:p.Asp1083=
XM_011513724.1:c.3261T>C	XP_011512026.1:p.Asp1087=
XM_011513725.1:c.3195T>C	XP_011512027.1:p.Asp1065=
XM_011513726.1:c.2781T>C	XP_011512028.1:p.Asp927=
XM_011513727.1:c.2781T>C	XP_011512029.1:p.Asp927=
XM_011513728.1:c.2769T>C	XP_011512030.1:p.Asp923=
XR_925155.1:n.3325T>C
NM_001317924.1:c.2769T>C	NP_001304853.1:p.Asp923=
XM_011513725.2:c.3195T>C	XP_011512027.1:p.Asp1065=
XM_011513726.3:c.2781T>C	XP_011512028.1:p.Asp927=
XM_017008501.1:c.2769T>C	XP_016863990.1:p.Asp923=
XR_001741306.1:n.3325T>C
XR_001741307.1:n.3313T>C
XR_001741308.1:n.3325T>C
XR_001741309.1:n.3313T>C
XR_001741310.1:n.3313T>C
XR_001741311.2:n.3162T>C
NM_025132.4:c.3249T>C MANE Select	NP_079408.3:p.Asp1083=
NM_001317924.2:c.2769T>C	NP_001304853.1:p.Asp923=