Canonical Allele Identifier: CA156465

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 133374
• ClinVar RCV Id: RCV000119875 ; RCV002284188 ; RCV003492515 ; RCV003975066
• dbSNP Id: rs2291591
• ExAC: 4:55147769 C / T
• gnomAD v2: 4-55147769-C-T
• gnomAD v3: 4-54281602-C-T
• gnomAD v4: 4-54281602-C-T
• MyVariant Identifiers: chr4:g.55147769C>T (hg19) ; chr4:g.54281602C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54281602C>T , CM000666.2:g.54281602C>T	GRCh38
NC_000004.11:g.55147769C>T , CM000666.1:g.55147769C>T	GRCh37
NC_000004.10:g.54842526C>T	NCBI36
NG_009250.1:g.57506C>T , LRG_309:g.57506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.2323+1120C>T MANE Select	ENSP00000257290.5:n.2323+1120C>T
ENST00000257290.9:c.2323+1120C>T	ENSP00000257290.5:n.2323+1120C>T
ENST00000507166.5:c.1603+1120C>T	ENSP00000423325.1:n.1603+1120C>T
ENST00000507536.1:n.771C>T
ENST00000509490.5:c.*266C>T	ENSP00000424218.1:n.*266C>T
NM_006206.4:c.2323+1120C>T , LRG_309t1:c.2323+1120C>T	NP_006197.1:n.2323+1120C>T
XM_005265743.1:c.2323+1120C>T	XP_005265800.1:n.2323+1120C>T
XM_006714039.2:c.2398+1120C>T	XP_006714102.1:n.2398+1120C>T
XM_006714041.2:c.2420C>T	XP_006714104.1:p.Thr807Met
XM_011534385.1:c.2323+1120C>T	XP_011532687.1:n.2323+1120C>T
XM_011534386.1:c.2323+1120C>T	XP_011532688.1:n.2323+1120C>T
NM_001347827.1:c.2345C>T	NP_001334756.1:p.Thr782Met
NM_001347828.1:c.2398+1120C>T	NP_001334757.1:n.2398+1120C>T
NM_001347829.1:c.2323+1120C>T	NP_001334758.1:n.2323+1120C>T
NM_001347830.1:c.2362+1120C>T	NP_001334759.1:n.2362+1120C>T
NM_006206.5:c.2323+1120C>T	NP_006197.1:n.2323+1120C>T
XM_006714041.3:c.2420C>T	XP_006714104.1:p.Thr807Met
XM_017008281.1:c.2384C>T	XP_016863770.1:p.Thr795Met
NM_006206.6:c.2323+1120C>T MANE Select	NP_006197.1:n.2323+1120C>T
NM_001347827.2:c.2345C>T	NP_001334756.1:p.Thr782Met
NM_001347828.2:c.2398+1120C>T	NP_001334757.1:n.2398+1120C>T
NM_001347829.2:c.2323+1120C>T	NP_001334758.1:n.2323+1120C>T
NM_001347830.2:c.2362+1120C>T	NP_001334759.1:n.2362+1120C>T