Canonical Allele Identifier: CA2892404

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1522585
• ClinVar RCV Id: RCV002036121
• dbSNP Id: rs765379022
• ExAC: 4:39274629 A / T
• gnomAD v2: 4-39274629-A-T
• gnomAD v4: 4-39273009-A-T
• MyVariant Identifiers: chr4:g.39274629A>T (hg19) ; chr4:g.39273009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39273009A>T , CM000666.2:g.39273009A>T	GRCh38
NC_000004.11:g.39274629A>T , CM000666.1:g.39274629A>T	GRCh37
NC_000004.10:g.38951024A>T	NCBI36
NG_031813.1:g.95606A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.3513A>T MANE Select	ENSP00000382717.3:p.Lys1171Asn
ENST00000399820.7:c.3513A>T	ENSP00000382717.3:p.Lys1171Asn
ENST00000506869.5:c.*3094A>T	ENSP00000424319.1:n.*3094A>T
ENST00000512095.5:n.2511A>T
ENST00000512534.5:n.78A>T
NM_025132.3:c.3513A>T	NP_079408.3:p.Lys1171Asn
XM_011513724.1:c.3525A>T	XP_011512026.1:p.Lys1175Asn
XM_011513725.1:c.3459A>T	XP_011512027.1:p.Lys1153Asn
XM_011513726.1:c.3045A>T	XP_011512028.1:p.Lys1015Asn
XM_011513727.1:c.3045A>T	XP_011512029.1:p.Lys1015Asn
XM_011513728.1:c.3033A>T	XP_011512030.1:p.Lys1011Asn
XR_925155.1:n.3589A>T
NM_001317924.1:c.3033A>T	NP_001304853.1:p.Lys1011Asn
XM_011513725.2:c.3459A>T	XP_011512027.1:p.Lys1153Asn
XM_011513726.3:c.3045A>T	XP_011512028.1:p.Lys1015Asn
XM_017008501.1:c.3033A>T	XP_016863990.1:p.Lys1011Asn
XR_001741306.1:n.3589A>T
XR_001741307.1:n.3577A>T
XR_001741308.1:n.3589A>T
XR_001741309.1:n.3577A>T
XR_001741310.1:n.3577A>T
XR_001741311.2:n.3426A>T
NM_025132.4:c.3513A>T MANE Select	NP_079408.3:p.Lys1171Asn
NM_001317924.2:c.3033A>T	NP_001304853.1:p.Lys1011Asn