Canonical Allele Identifier: CA10621200

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 348940
• ClinVar RCV Id: RCV000262998 ; RCV000355461
• dbSNP Id: rs554089461
• gnomAD v2: 4-55163550-G-A
• gnomAD v3: 4-54297383-G-A
• gnomAD v4: 4-54297383-G-A
• MyVariant Identifiers: chr4:g.55163550G>A (hg19) ; chr4:g.54297383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54297383G>A , CM000666.2:g.54297383G>A	GRCh38
NC_000004.11:g.55163550G>A , CM000666.1:g.55163550G>A	GRCh37
NC_000004.10:g.54858307G>A	NCBI36
NG_009250.1:g.73287G>A , LRG_309:g.73287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.*2111G>A MANE Select	ENSP00000257290.5:n.*2111G>A
ENST00000257290.9:c.*2111G>A	ENSP00000257290.5:n.*2111G>A
NM_006206.4:c.*2111G>A , LRG_309t1:c.*2111G>A	NP_006197.1:n.*2111G>A
XM_005265743.1:c.*2111G>A	XP_005265800.1:n.*2111G>A
XM_006714039.2:c.*2111G>A	XP_006714102.1:n.*2111G>A
XM_011534385.1:c.*2111G>A	XP_011532687.1:n.*2111G>A
XM_011534386.1:c.*2111G>A	XP_011532688.1:n.*2111G>A
NM_001347828.1:c.*2111G>A	NP_001334757.1:n.*2111G>A
NM_001347829.1:c.*2111G>A	NP_001334758.1:n.*2111G>A
NM_001347830.1:c.*2111G>A	NP_001334759.1:n.*2111G>A
NM_006206.5:c.*2111G>A	NP_006197.1:n.*2111G>A
NM_006206.6:c.*2111G>A MANE Select	NP_006197.1:n.*2111G>A
NM_001347828.2:c.*2111G>A	NP_001334757.1:n.*2111G>A
NM_001347829.2:c.*2111G>A	NP_001334758.1:n.*2111G>A
NM_001347830.2:c.*2111G>A	NP_001334759.1:n.*2111G>A