Canonical Allele Identifier: CA2892085

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1369125
• ClinVar RCV Id: RCV001867840 ; RCV002478174
• dbSNP Id: rs749621367
• ExAC: 4:39245896 T / A
• gnomAD v2: 4-39245896-T-A
• gnomAD v3: 4-39244276-T-A
• gnomAD v4: 4-39244276-T-A
• MyVariant Identifiers: chr4:g.39245896T>A (hg19) ; chr4:g.39244276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244276T>A , CM000666.2:g.39244276T>A	GRCh38
NC_000004.11:g.39245896T>A , CM000666.1:g.39245896T>A	GRCh37
NC_000004.10:g.38922291T>A	NCBI36
NG_031813.1:g.66873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2450T>A MANE Select	ENSP00000382717.3:p.Val817Glu
ENST00000399820.7:c.2450T>A	ENSP00000382717.3:p.Val817Glu
ENST00000506869.5:c.*2031T>A	ENSP00000424319.1:n.*2031T>A
ENST00000512095.5:n.1448T>A
NM_025132.3:c.2450T>A	NP_079408.3:p.Val817Glu
XM_011513724.1:c.2462T>A	XP_011512026.1:p.Val821Glu
XM_011513725.1:c.2396T>A	XP_011512027.1:p.Val799Glu
XM_011513726.1:c.1982T>A	XP_011512028.1:p.Val661Glu
XM_011513727.1:c.1982T>A	XP_011512029.1:p.Val661Glu
XM_011513728.1:c.1970T>A	XP_011512030.1:p.Val657Glu
XM_011513729.1:c.2462T>A	XP_011512031.1:p.Val821Glu
XR_925155.1:n.2526T>A
NM_001317924.1:c.1970T>A	NP_001304853.1:p.Val657Glu
XM_011513725.2:c.2396T>A	XP_011512027.1:p.Val799Glu
XM_011513726.3:c.1982T>A	XP_011512028.1:p.Val661Glu
XM_017008501.1:c.1970T>A	XP_016863990.1:p.Val657Glu
XR_001741306.1:n.2526T>A
XR_001741307.1:n.2514T>A
XR_001741308.1:n.2526T>A
XR_001741309.1:n.2514T>A
XR_001741310.1:n.2514T>A
XR_001741311.2:n.2363T>A
NM_025132.4:c.2450T>A MANE Select	NP_079408.3:p.Val817Glu
NM_001317924.2:c.1970T>A	NP_001304853.1:p.Val657Glu