Canonical Allele Identifier: CA10618775
Gene: PDGFRA HGNC NCBI

Linked Data

ClinVar Variation Id: 348890
ClinVar RCV Id: RCV000335007 RCV000402885 RCV003430889
dbSNP Id: rs145549583
gnomAD v2: 4-55095311-G-A
gnomAD v3: 4-54229144-G-A
gnomAD v4: 4-54229144-G-A
MyVariant Identifiers: chr4:g.55095311G>A (hg19) chr4:g.54229144G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54229144G>A , CM000666.2:g.54229144G>A GRCh38
NC_000004.11:g.55095311G>A , CM000666.1:g.55095311G>A GRCh37
NC_000004.10:g.54790068G>A NCBI36
NG_009250.1:g.5048G>A , LRG_309:g.5048G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.9:c.-284G>A ENSP00000257290.5:n.-284G>A
ENST00000507166.5:c.1018-45781G>A ENSP00000423325.1:n.1018-45781G>A
NM_006206.4:c.-284G>A , LRG_309t1:c.-284G>A NP_006197.1:n.-284G>A
XM_006714039.2:c.-287G>A XP_006714102.1:n.-287G>A
XM_006714041.2:c.-287G>A XP_006714104.1:n.-287G>A
NM_001347827.1:c.-284G>A NP_001334756.1:n.-284G>A
NM_001347828.1:c.-287G>A NP_001334757.1:n.-287G>A
NM_006206.5:c.-284G>A NP_006197.1:n.-284G>A
XM_006714041.3:c.-287G>A XP_006714104.1:n.-287G>A
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