Canonical Allele Identifier: CA356891576

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 1514167
• ClinVar RCV Id: RCV002026543 ; RCV002386913
• dbSNP Id: rs1577715382
• gnomAD v4: 4-54267618-A-G
• MyVariant Identifiers: chr4:g.55133785A>G (hg19) ; chr4:g.54267618A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267618A>G , CM000666.2:g.54267618A>G	GRCh38
NC_000004.11:g.55133785A>G , CM000666.1:g.55133785A>G	GRCh37
NC_000004.10:g.54828542A>G	NCBI36
NG_009250.1:g.43522A>G , LRG_309:g.43522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.998A>G MANE Select	ENSP00000257290.5:p.Lys333Arg
ENST00000257290.9:c.998A>G	ENSP00000257290.5:p.Lys333Arg
ENST00000507166.5:c.1018-7307A>G	ENSP00000423325.1:n.1018-7307A>G
ENST00000509092.5:n.816A>G
ENST00000509490.5:c.998A>G	ENSP00000424218.1:p.Lys333Arg
NM_006206.4:c.998A>G , LRG_309t1:c.998A>G	NP_006197.1:p.Lys333Arg
XM_005265743.1:c.998A>G	XP_005265800.1:p.Lys333Arg
XM_006714039.2:c.1073A>G	XP_006714102.1:p.Lys358Arg
XM_006714041.2:c.1073A>G	XP_006714104.1:p.Lys358Arg
XM_011534385.1:c.998A>G	XP_011532687.1:p.Lys333Arg
XM_011534386.1:c.998A>G	XP_011532688.1:p.Lys333Arg
NM_001347827.1:c.998A>G	NP_001334756.1:p.Lys333Arg
NM_001347828.1:c.1073A>G	NP_001334757.1:p.Lys358Arg
NM_001347829.1:c.998A>G	NP_001334758.1:p.Lys333Arg
NM_001347830.1:c.1037A>G	NP_001334759.1:p.Lys346Arg
NM_006206.5:c.998A>G	NP_006197.1:p.Lys333Arg
XM_006714041.3:c.1073A>G	XP_006714104.1:p.Lys358Arg
XM_017008281.1:c.1037A>G	XP_016863770.1:p.Lys346Arg
NM_006206.6:c.998A>G MANE Select	NP_006197.1:p.Lys333Arg
NM_001347827.2:c.998A>G	NP_001334756.1:p.Lys333Arg
NM_001347828.2:c.1073A>G	NP_001334757.1:p.Lys358Arg
NM_001347829.2:c.998A>G	NP_001334758.1:p.Lys333Arg
NM_001347830.2:c.1037A>G	NP_001334759.1:p.Lys346Arg