Canonical Allele Identifier: CA3076447

Gene: PLK4

Linked Data

• ClinVar Variation Id: 436338
• ClinVar RCV Id: RCV000500037 ; RCV001034414 ; RCV002524268
• dbSNP Id: rs149003893
• ExAC: 4:128802306 G / A
• gnomAD v2: 4-128802306-G-A
• gnomAD v3: 4-127881151-G-A
• gnomAD v4: 4-127881151-G-A
• MyVariant Identifiers: chr4:g.128802306G>A (hg19) ; chr4:g.127881151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127881151G>A , CM000666.2:g.127881151G>A	GRCh38
NC_000004.11:g.128802306G>A , CM000666.1:g.128802306G>A	GRCh37
NC_000004.10:g.129021756G>A	NCBI36
NG_041821.1:g.5291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270861.10:c.17G>A MANE Select	ENSP00000270861.5:p.Gly6Glu
ENST00000270861.9:c.17G>A	ENSP00000270861.5:p.Gly6Glu
ENST00000503914.1:n.253G>A
ENST00000507249.5:c.17G>A	ENSP00000423412.1:p.Gly6Glu
ENST00000511942.5:n.259G>A
ENST00000513090.5:c.17G>A	ENSP00000427554.1:p.Gly6Glu
ENST00000515069.5:c.17G>A	ENSP00000421774.1:p.Gly6Glu
NM_001190799.1:c.17G>A	NP_001177728.1:p.Gly6Glu
NM_014264.4:c.17G>A	NP_055079.3:p.Gly6Glu
XM_005262701.2:c.17G>A	XP_005262758.1:p.Gly6Glu
XM_011531552.1:c.17G>A	XP_011529854.1:p.Gly6Glu
XM_005262701.3:c.17G>A	XP_005262758.1:p.Gly6Glu
NM_014264.5:c.17G>A MANE Select	NP_055079.3:p.Gly6Glu
NM_001190799.2:c.17G>A	NP_001177728.1:p.Gly6Glu