Canonical Allele Identifier: CA215865

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 41798
• ClinVar RCV Id: RCV003473260
• dbSNP Id: rs200042995
• ExAC: 4:55156496 A / G
• gnomAD v2: 4-55156496-A-G
• gnomAD v3: 4-54290329-A-G
• gnomAD v4: 4-54290329-A-G
• COSMIC: COSM1581436
• MyVariant Identifiers: chr4:g.55156496A>G (hg19) ; chr4:g.54290329A>G (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54290329A>G , CM000666.2:g.54290329A>G	GRCh38
NC_000004.11:g.55156496A>G , CM000666.1:g.55156496A>G	GRCh37
NC_000004.10:g.54851253A>G	NCBI36
NG_009250.1:g.66233A>G , LRG_309:g.66233A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257290.10:c.2897A>G MANE Select	ENSP00000257290.5:p.His966Arg
ENST00000257290.9:c.2897A>G	ENSP00000257290.5:p.His966Arg
ENST00000507166.5:c.2177A>G	ENSP00000423325.1:p.His726Arg
NM_006206.4:c.2897A>G , LRG_309t1:c.2897A>G	NP_006197.1:p.His966Arg
XM_005265743.1:c.2897A>G	XP_005265800.1:p.His966Arg
XM_006714039.2:c.2972A>G	XP_006714102.1:p.His991Arg
XM_011534385.1:c.2897A>G	XP_011532687.1:p.His966Arg
XM_011534386.1:c.2897A>G	XP_011532688.1:p.His966Arg
NM_001347828.1:c.2972A>G	NP_001334757.1:p.His991Arg
NM_001347829.1:c.2897A>G	NP_001334758.1:p.His966Arg
NM_001347830.1:c.2936A>G	NP_001334759.1:p.His979Arg
NM_006206.5:c.2897A>G	NP_006197.1:p.His966Arg
NM_006206.6:c.2897A>G MANE Select	NP_006197.1:p.His966Arg
NM_001347828.2:c.2972A>G	NP_001334757.1:p.His991Arg
NM_001347829.2:c.2897A>G	NP_001334758.1:p.His966Arg
NM_001347830.2:c.2936A>G	NP_001334759.1:p.His979Arg