Canonical Allele Identifier: CA2892126

Gene: WDR19

Linked Data

• ClinVar Variation Id: 423393
• ClinVar RCV Id: RCV000486591 ; RCV001078579 ; RCV001146438 ; RCV001821402 ; RCV001146437 ; RCV004535530
• dbSNP Id: rs201963605
• ExAC: 4:39246135 G / A
• gnomAD v2: 4-39246135-G-A
• gnomAD v3: 4-39244515-G-A
• gnomAD v4: 4-39244515-G-A
• MyVariant Identifiers: chr4:g.39246135G>A (hg19) ; chr4:g.39244515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244515G>A , CM000666.2:g.39244515G>A	GRCh38
NC_000004.11:g.39246135G>A , CM000666.1:g.39246135G>A	GRCh37
NC_000004.10:g.38922530G>A	NCBI36
NG_031813.1:g.67112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2608G>A MANE Select	ENSP00000382717.3:p.Asp870Asn
ENST00000399820.7:c.2608G>A	ENSP00000382717.3:p.Asp870Asn
ENST00000506869.5:c.*2189G>A	ENSP00000424319.1:n.*2189G>A
ENST00000512095.5:n.1606G>A
NM_025132.3:c.2608G>A	NP_079408.3:p.Asp870Asn
XM_011513724.1:c.2620G>A	XP_011512026.1:p.Asp874Asn
XM_011513725.1:c.2554G>A	XP_011512027.1:p.Asp852Asn
XM_011513726.1:c.2140G>A	XP_011512028.1:p.Asp714Asn
XM_011513727.1:c.2140G>A	XP_011512029.1:p.Asp714Asn
XM_011513728.1:c.2128G>A	XP_011512030.1:p.Asp710Asn
XM_011513729.1:c.2620G>A	XP_011512031.1:p.Asp874Asn
XR_925155.1:n.2684G>A
NM_001317924.1:c.2128G>A	NP_001304853.1:p.Asp710Asn
XM_011513725.2:c.2554G>A	XP_011512027.1:p.Asp852Asn
XM_011513726.3:c.2140G>A	XP_011512028.1:p.Asp714Asn
XM_017008501.1:c.2128G>A	XP_016863990.1:p.Asp710Asn
XR_001741306.1:n.2684G>A
XR_001741307.1:n.2672G>A
XR_001741308.1:n.2684G>A
XR_001741309.1:n.2672G>A
XR_001741310.1:n.2672G>A
XR_001741311.2:n.2521G>A
NM_025132.4:c.2608G>A MANE Select	NP_079408.3:p.Asp870Asn
NM_001317924.2:c.2128G>A	NP_001304853.1:p.Asp710Asn