Canonical Allele Identifier: CA95686331

Gene: WDR19

Linked Data

• ClinVar Variation Id: 1514580
• ClinVar RCV Id: RCV002029401
• dbSNP Id: rs981943939
• MyVariant Identifiers: chr4:g.39207278C>T (hg19) ; chr4:g.39205658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205658C>T , CM000666.2:g.39205658C>T	GRCh38
NC_000004.11:g.39207278C>T , CM000666.1:g.39207278C>T	GRCh37
NC_000004.10:g.38883673C>T	NCBI36
NG_031813.1:g.28255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.812C>T MANE Select	ENSP00000382717.3:p.Ala271Val
ENST00000399820.7:c.812C>T	ENSP00000382717.3:p.Ala271Val
ENST00000503697.5:c.*280C>T	ENSP00000423706.1:n.*280C>T
ENST00000506503.1:c.812C>T	ENSP00000423491.1:p.Ala271Val
ENST00000506869.5:c.*393C>T	ENSP00000424319.1:n.*393C>T
ENST00000511729.5:n.41-22900C>T
ENST00000512448.1:n.406C>T
NM_025132.3:c.812C>T	NP_079408.3:p.Ala271Val
XM_011513724.1:c.812C>T	XP_011512026.1:p.Ala271Val
XM_011513725.1:c.746C>T	XP_011512027.1:p.Ala249Val
XM_011513726.1:c.332C>T	XP_011512028.1:p.Ala111Val
XM_011513727.1:c.332C>T	XP_011512029.1:p.Ala111Val
XM_011513728.1:c.332C>T	XP_011512030.1:p.Ala111Val
XM_011513729.1:c.812C>T	XP_011512031.1:p.Ala271Val
XR_925155.1:n.876C>T
NM_001317924.1:c.332C>T	NP_001304853.1:p.Ala111Val
XM_011513725.2:c.746C>T	XP_011512027.1:p.Ala249Val
XM_011513726.3:c.332C>T	XP_011512028.1:p.Ala111Val
XM_017008501.1:c.332C>T	XP_016863990.1:p.Ala111Val
XR_001741306.1:n.876C>T
XR_001741307.1:n.876C>T
XR_001741308.1:n.876C>T
XR_001741309.1:n.876C>T
XR_001741310.1:n.876C>T
XR_001741311.2:n.725C>T
XR_001741312.1:n.876C>T
NM_025132.4:c.812C>T MANE Select	NP_079408.3:p.Ala271Val
NM_001317924.2:c.332C>T	NP_001304853.1:p.Ala111Val