Canonical Allele Identifier: CA2892087

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1479554
• ClinVar RCV Id: RCV001976830 ; RCV002479650 ; RCV003303556
• dbSNP Id: rs779337768
• ExAC: 4:39245901 C / A
• gnomAD v2: 4-39245901-C-A
• gnomAD v3: 4-39244281-C-A
• gnomAD v4: 4-39244281-C-A
• MyVariant Identifiers: chr4:g.39245901C>A (hg19) ; chr4:g.39244281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244281C>A , CM000666.2:g.39244281C>A	GRCh38
NC_000004.11:g.39245901C>A , CM000666.1:g.39245901C>A	GRCh37
NC_000004.10:g.38922296C>A	NCBI36
NG_031813.1:g.66878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2455C>A MANE Select	ENSP00000382717.3:p.Gln819Lys
ENST00000399820.7:c.2455C>A	ENSP00000382717.3:p.Gln819Lys
ENST00000506869.5:c.*2036C>A	ENSP00000424319.1:n.*2036C>A
ENST00000512095.5:n.1453C>A
NM_025132.3:c.2455C>A	NP_079408.3:p.Gln819Lys
XM_011513724.1:c.2467C>A	XP_011512026.1:p.Gln823Lys
XM_011513725.1:c.2401C>A	XP_011512027.1:p.Gln801Lys
XM_011513726.1:c.1987C>A	XP_011512028.1:p.Gln663Lys
XM_011513727.1:c.1987C>A	XP_011512029.1:p.Gln663Lys
XM_011513728.1:c.1975C>A	XP_011512030.1:p.Gln659Lys
XM_011513729.1:c.2467C>A	XP_011512031.1:p.Gln823Lys
XR_925155.1:n.2531C>A
NM_001317924.1:c.1975C>A	NP_001304853.1:p.Gln659Lys
XM_011513725.2:c.2401C>A	XP_011512027.1:p.Gln801Lys
XM_011513726.3:c.1987C>A	XP_011512028.1:p.Gln663Lys
XM_017008501.1:c.1975C>A	XP_016863990.1:p.Gln659Lys
XR_001741306.1:n.2531C>A
XR_001741307.1:n.2519C>A
XR_001741308.1:n.2531C>A
XR_001741309.1:n.2519C>A
XR_001741310.1:n.2519C>A
XR_001741311.2:n.2368C>A
NM_025132.4:c.2455C>A MANE Select	NP_079408.3:p.Gln819Lys
NM_001317924.2:c.1975C>A	NP_001304853.1:p.Gln659Lys