Canonical Allele Identifier: CA2923052

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 240344
• ClinVar RCV Id: RCV000229701 ; RCV001019014 ; RCV001535433 ; RCV003235156
• dbSNP Id: rs774522904
• ExAC: 4:55161348 T / A
• gnomAD v2: 4-55161348-T-A
• gnomAD v3: 4-54295181-T-A
• gnomAD v4: 4-54295181-T-A
• MyVariant Identifiers: chr4:g.55161348T>A (hg19) ; chr4:g.54295181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54295181T>A , CM000666.2:g.54295181T>A	GRCh38
NC_000004.11:g.55161348T>A , CM000666.1:g.55161348T>A	GRCh37
NC_000004.10:g.54856105T>A	NCBI36
NG_009250.1:g.71085T>A , LRG_309:g.71085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.3179T>A MANE Select	ENSP00000257290.5:p.Ile1060Asn
ENST00000257290.9:c.3179T>A	ENSP00000257290.5:p.Ile1060Asn
ENST00000507166.5:c.2459T>A	ENSP00000423325.1:p.Ile820Asn
NM_006206.4:c.3179T>A , LRG_309t1:c.3179T>A	NP_006197.1:p.Ile1060Asn
XM_005265743.1:c.3179T>A	XP_005265800.1:p.Ile1060Asn
XM_006714039.2:c.3254T>A	XP_006714102.1:p.Ile1085Asn
XM_011534385.1:c.3179T>A	XP_011532687.1:p.Ile1060Asn
XM_011534386.1:c.3179T>A	XP_011532688.1:p.Ile1060Asn
NM_001347828.1:c.3254T>A	NP_001334757.1:p.Ile1085Asn
NM_001347829.1:c.3179T>A	NP_001334758.1:p.Ile1060Asn
NM_001347830.1:c.3218T>A	NP_001334759.1:p.Ile1073Asn
NM_006206.5:c.3179T>A	NP_006197.1:p.Ile1060Asn
NM_006206.6:c.3179T>A MANE Select	NP_006197.1:p.Ile1060Asn
NM_001347828.2:c.3254T>A	NP_001334757.1:p.Ile1085Asn
NM_001347829.2:c.3179T>A	NP_001334758.1:p.Ile1060Asn
NM_001347830.2:c.3218T>A	NP_001334759.1:p.Ile1073Asn