Canonical Allele Identifier: CA2922193

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 528570
• ClinVar RCV Id: RCV000633792 ; RCV002343230
• dbSNP Id: rs138929755
• ExAC: 4:55124946 C / G
• gnomAD v2: 4-55124946-C-G
• gnomAD v4: 4-54258779-C-G
• MyVariant Identifiers: chr4:g.55124946C>G (hg19) ; chr4:g.54258779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54258779C>G , CM000666.2:g.54258779C>G	GRCh38
NC_000004.11:g.55124946C>G , CM000666.1:g.55124946C>G	GRCh37
NC_000004.10:g.54819703C>G	NCBI36
NG_009250.1:g.34683C>G , LRG_309:g.34683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.11C>G MANE Select	ENSP00000257290.5:p.Ser4Cys
ENST00000257290.9:c.11C>G	ENSP00000257290.5:p.Ser4Cys
ENST00000503856.5:c.11C>G	ENSP00000425902.1:p.Ser4Cys
ENST00000504461.5:c.11C>G	ENSP00000426472.1:p.Ser4Cys
ENST00000507166.5:c.1018-16146C>G	ENSP00000423325.1:n.1018-16146C>G
ENST00000508170.5:c.11C>G	ENSP00000425648.1:p.Ser4Cys
ENST00000509092.5:n.147C>G
ENST00000509490.5:c.11C>G	ENSP00000424218.1:p.Ser4Cys
ENST00000512143.1:c.86C>G	ENSP00000425626.1:p.Ser29Cys
ENST00000512522.1:c.11C>G	ENSP00000425232.1:p.Ser4Cys
NM_006206.4:c.11C>G , LRG_309t1:c.11C>G	NP_006197.1:p.Ser4Cys
XM_005265743.1:c.11C>G	XP_005265800.1:p.Ser4Cys
XM_006714039.2:c.86C>G	XP_006714102.1:p.Ser29Cys
XM_006714041.2:c.86C>G	XP_006714104.1:p.Ser29Cys
XM_011534385.1:c.11C>G	XP_011532687.1:p.Ser4Cys
XM_011534386.1:c.11C>G	XP_011532688.1:p.Ser4Cys
NM_001347827.1:c.11C>G	NP_001334756.1:p.Ser4Cys
NM_001347828.1:c.86C>G	NP_001334757.1:p.Ser29Cys
NM_001347829.1:c.11C>G	NP_001334758.1:p.Ser4Cys
NM_001347830.1:c.50C>G	NP_001334759.1:p.Ser17Cys
NM_006206.5:c.11C>G	NP_006197.1:p.Ser4Cys
XM_006714041.3:c.86C>G	XP_006714104.1:p.Ser29Cys
XM_017008281.1:c.50C>G	XP_016863770.1:p.Ser17Cys
NM_006206.6:c.11C>G MANE Select	NP_006197.1:p.Ser4Cys
NM_001347827.2:c.11C>G	NP_001334756.1:p.Ser4Cys
NM_001347828.2:c.86C>G	NP_001334757.1:p.Ser29Cys
NM_001347829.2:c.11C>G	NP_001334758.1:p.Ser4Cys
NM_001347830.2:c.50C>G	NP_001334759.1:p.Ser17Cys