Canonical Allele Identifier: CA2892086

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1143277
• ClinVar RCV Id: RCV001481407 ; RCV001528707 ; RCV001699553
• dbSNP Id: rs748535483
• ExAC: 4:39245900 C / T
• gnomAD v2: 4-39245900-C-T
• gnomAD v3: 4-39244280-C-T
• gnomAD v4: 4-39244280-C-T
• MyVariant Identifiers: chr4:g.39245900C>T (hg19) ; chr4:g.39244280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39244280C>T , CM000666.2:g.39244280C>T	GRCh38
NC_000004.11:g.39245900C>T , CM000666.1:g.39245900C>T	GRCh37
NC_000004.10:g.38922295C>T	NCBI36
NG_031813.1:g.66877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.2454C>T MANE Select	ENSP00000382717.3:p.Ala818=
ENST00000399820.7:c.2454C>T	ENSP00000382717.3:p.Ala818=
ENST00000506869.5:c.*2035C>T	ENSP00000424319.1:n.*2035C>T
ENST00000512095.5:n.1452C>T
NM_025132.3:c.2454C>T	NP_079408.3:p.Ala818=
XM_011513724.1:c.2466C>T	XP_011512026.1:p.Ala822=
XM_011513725.1:c.2400C>T	XP_011512027.1:p.Ala800=
XM_011513726.1:c.1986C>T	XP_011512028.1:p.Ala662=
XM_011513727.1:c.1986C>T	XP_011512029.1:p.Ala662=
XM_011513728.1:c.1974C>T	XP_011512030.1:p.Ala658=
XM_011513729.1:c.2466C>T	XP_011512031.1:p.Ala822=
XR_925155.1:n.2530C>T
NM_001317924.1:c.1974C>T	NP_001304853.1:p.Ala658=
XM_011513725.2:c.2400C>T	XP_011512027.1:p.Ala800=
XM_011513726.3:c.1986C>T	XP_011512028.1:p.Ala662=
XM_017008501.1:c.1974C>T	XP_016863990.1:p.Ala658=
XR_001741306.1:n.2530C>T
XR_001741307.1:n.2518C>T
XR_001741308.1:n.2530C>T
XR_001741309.1:n.2518C>T
XR_001741310.1:n.2518C>T
XR_001741311.2:n.2367C>T
NM_025132.4:c.2454C>T MANE Select	NP_079408.3:p.Ala818=
NM_001317924.2:c.1974C>T	NP_001304853.1:p.Ala658=