Canonical Allele Identifier: CA215861

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 41795
• ClinVar RCV Id: RCV000034717 ; RCV002399366 ; RCV003473259
• dbSNP Id: rs201503614
• ExAC: 4:55141054 C / T
• gnomAD v2: 4-55141054-C-T
• gnomAD v3: 4-54274887-C-T
• gnomAD v4: 4-54274887-C-T
• COSMIC: COSM6438078
• MyVariant Identifiers: chr4:g.55141054C>T (hg19) ; chr4:g.54274887C>T (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274887C>T , CM000666.2:g.54274887C>T	GRCh38
NC_000004.11:g.55141054C>T , CM000666.1:g.55141054C>T	GRCh37
NC_000004.10:g.54835811C>T	NCBI36
NG_009250.1:g.50791C>T , LRG_309:g.50791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1700C>T MANE Select	ENSP00000257290.5:p.Pro567Leu
ENST00000257290.9:c.1700C>T	ENSP00000257290.5:p.Pro567Leu
ENST00000507166.5:c.1018-38C>T	ENSP00000423325.1:n.1018-38C>T
ENST00000509092.5:n.1518C>T
ENST00000509490.5:c.1700C>T	ENSP00000424218.1:p.Pro567Leu
NM_006206.4:c.1700C>T , LRG_309t1:c.1700C>T	NP_006197.1:p.Pro567Leu
XM_005265743.1:c.1700C>T	XP_005265800.1:p.Pro567Leu
XM_006714039.2:c.1775C>T	XP_006714102.1:p.Pro592Leu
XM_006714041.2:c.1775C>T	XP_006714104.1:p.Pro592Leu
XM_011534385.1:c.1700C>T	XP_011532687.1:p.Pro567Leu
XM_011534386.1:c.1700C>T	XP_011532688.1:p.Pro567Leu
NM_001347827.1:c.1700C>T	NP_001334756.1:p.Pro567Leu
NM_001347828.1:c.1775C>T	NP_001334757.1:p.Pro592Leu
NM_001347829.1:c.1700C>T	NP_001334758.1:p.Pro567Leu
NM_001347830.1:c.1739C>T	NP_001334759.1:p.Pro580Leu
NM_006206.5:c.1700C>T	NP_006197.1:p.Pro567Leu
XM_006714041.3:c.1775C>T	XP_006714104.1:p.Pro592Leu
XM_017008281.1:c.1739C>T	XP_016863770.1:p.Pro580Leu
NM_006206.6:c.1700C>T MANE Select	NP_006197.1:p.Pro567Leu
NM_001347827.2:c.1700C>T	NP_001334756.1:p.Pro567Leu
NM_001347828.2:c.1775C>T	NP_001334757.1:p.Pro592Leu
NM_001347829.2:c.1700C>T	NP_001334758.1:p.Pro567Leu
NM_001347830.2:c.1739C>T	NP_001334759.1:p.Pro580Leu