Canonical Allele Identifier: CA356891774

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 1362393
• ClinVar RCV Id: RCV001900153 ; RCV003164140
• dbSNP Id: rs2110267512
• gnomAD v4: 4-54267709-C-G
• MyVariant Identifiers: chr4:g.55133876C>G (hg19) ; chr4:g.54267709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267709C>G , CM000666.2:g.54267709C>G	GRCh38
NC_000004.11:g.55133876C>G , CM000666.1:g.55133876C>G	GRCh37
NC_000004.10:g.54828633C>G	NCBI36
NG_009250.1:g.43613C>G , LRG_309:g.43613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1089C>G MANE Select	ENSP00000257290.5:p.Ile363Met
ENST00000257290.9:c.1089C>G	ENSP00000257290.5:p.Ile363Met
ENST00000507166.5:c.1018-7216C>G	ENSP00000423325.1:n.1018-7216C>G
ENST00000509092.5:n.907C>G
ENST00000509490.5:c.1089C>G	ENSP00000424218.1:p.Ile363Met
NM_006206.4:c.1089C>G , LRG_309t1:c.1089C>G	NP_006197.1:p.Ile363Met
XM_005265743.1:c.1089C>G	XP_005265800.1:p.Ile363Met
XM_006714039.2:c.1164C>G	XP_006714102.1:p.Ile388Met
XM_006714041.2:c.1164C>G	XP_006714104.1:p.Ile388Met
XM_011534385.1:c.1089C>G	XP_011532687.1:p.Ile363Met
XM_011534386.1:c.1089C>G	XP_011532688.1:p.Ile363Met
NM_001347827.1:c.1089C>G	NP_001334756.1:p.Ile363Met
NM_001347828.1:c.1164C>G	NP_001334757.1:p.Ile388Met
NM_001347829.1:c.1089C>G	NP_001334758.1:p.Ile363Met
NM_001347830.1:c.1128C>G	NP_001334759.1:p.Ile376Met
NM_006206.5:c.1089C>G	NP_006197.1:p.Ile363Met
XM_006714041.3:c.1164C>G	XP_006714104.1:p.Ile388Met
XM_017008281.1:c.1128C>G	XP_016863770.1:p.Ile376Met
NM_006206.6:c.1089C>G MANE Select	NP_006197.1:p.Ile363Met
NM_001347827.2:c.1089C>G	NP_001334756.1:p.Ile363Met
NM_001347828.2:c.1164C>G	NP_001334757.1:p.Ile388Met
NM_001347829.2:c.1089C>G	NP_001334758.1:p.Ile363Met
NM_001347830.2:c.1128C>G	NP_001334759.1:p.Ile376Met