Canonical Allele Identifier: CA356893100

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 567602
• ClinVar RCV Id: RCV000687737 ; RCV002397377
• dbSNP Id: rs1178831870
• gnomAD v2: 4-55141047-A-G
• gnomAD v4: 4-54274880-A-G
• COSMIC: COSM327112
• MyVariant Identifiers: chr4:g.55141047A>G (hg19) ; chr4:g.54274880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274880A>G , CM000666.2:g.54274880A>G	GRCh38
NC_000004.11:g.55141047A>G , CM000666.1:g.55141047A>G	GRCh37
NC_000004.10:g.54835804A>G	NCBI36
NG_009250.1:g.50784A>G , LRG_309:g.50784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1693A>G MANE Select	ENSP00000257290.5:p.Ile565Val
ENST00000257290.9:c.1693A>G	ENSP00000257290.5:p.Ile565Val
ENST00000507166.5:c.1018-45A>G	ENSP00000423325.1:n.1018-45A>G
ENST00000509092.5:n.1511A>G
ENST00000509490.5:c.1693A>G	ENSP00000424218.1:p.Ile565Val
NM_006206.4:c.1693A>G , LRG_309t1:c.1693A>G	NP_006197.1:p.Ile565Val
XM_005265743.1:c.1693A>G	XP_005265800.1:p.Ile565Val
XM_006714039.2:c.1768A>G	XP_006714102.1:p.Ile590Val
XM_006714041.2:c.1768A>G	XP_006714104.1:p.Ile590Val
XM_011534385.1:c.1693A>G	XP_011532687.1:p.Ile565Val
XM_011534386.1:c.1693A>G	XP_011532688.1:p.Ile565Val
NM_001347827.1:c.1693A>G	NP_001334756.1:p.Ile565Val
NM_001347828.1:c.1768A>G	NP_001334757.1:p.Ile590Val
NM_001347829.1:c.1693A>G	NP_001334758.1:p.Ile565Val
NM_001347830.1:c.1732A>G	NP_001334759.1:p.Ile578Val
NM_006206.5:c.1693A>G	NP_006197.1:p.Ile565Val
XM_006714041.3:c.1768A>G	XP_006714104.1:p.Ile590Val
XM_017008281.1:c.1732A>G	XP_016863770.1:p.Ile578Val
NM_006206.6:c.1693A>G MANE Select	NP_006197.1:p.Ile565Val
NM_001347827.2:c.1693A>G	NP_001334756.1:p.Ile565Val
NM_001347828.2:c.1768A>G	NP_001334757.1:p.Ile590Val
NM_001347829.2:c.1693A>G	NP_001334758.1:p.Ile565Val
NM_001347830.2:c.1732A>G	NP_001334759.1:p.Ile578Val