Canonical Allele Identifier: CA439286726

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 2143813
• ClinVar RCV Id: RCV003053175 ; RCV004070312
• dbSNP Id: rs1454468614
• gnomAD v2: 4-55133777-T-C
• gnomAD v4: 4-54267610-T-C
• MyVariant Identifiers: chr4:g.55133777T>C (hg19) ; chr4:g.54267610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54267610T>C , CM000666.2:g.54267610T>C	GRCh38
NC_000004.11:g.55133777T>C , CM000666.1:g.55133777T>C	GRCh37
NC_000004.10:g.54828534T>C	NCBI36
NG_009250.1:g.43514T>C , LRG_309:g.43514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.990T>C MANE Select	ENSP00000257290.5:p.His330=
ENST00000257290.9:c.990T>C	ENSP00000257290.5:p.His330=
ENST00000507166.5:c.1018-7315T>C	ENSP00000423325.1:n.1018-7315T>C
ENST00000509092.5:n.808T>C
ENST00000509490.5:c.990T>C	ENSP00000424218.1:p.His330=
NM_006206.4:c.990T>C , LRG_309t1:c.990T>C	NP_006197.1:p.His330=
XM_005265743.1:c.990T>C	XP_005265800.1:p.His330=
XM_006714039.2:c.1065T>C	XP_006714102.1:p.His355=
XM_006714041.2:c.1065T>C	XP_006714104.1:p.His355=
XM_011534385.1:c.990T>C	XP_011532687.1:p.His330=
XM_011534386.1:c.990T>C	XP_011532688.1:p.His330=
NM_001347827.1:c.990T>C	NP_001334756.1:p.His330=
NM_001347828.1:c.1065T>C	NP_001334757.1:p.His355=
NM_001347829.1:c.990T>C	NP_001334758.1:p.His330=
NM_001347830.1:c.1029T>C	NP_001334759.1:p.His343=
NM_006206.5:c.990T>C	NP_006197.1:p.His330=
XM_006714041.3:c.1065T>C	XP_006714104.1:p.His355=
XM_017008281.1:c.1029T>C	XP_016863770.1:p.His343=
NM_006206.6:c.990T>C MANE Select	NP_006197.1:p.His330=
NM_001347827.2:c.990T>C	NP_001334756.1:p.His330=
NM_001347828.2:c.1065T>C	NP_001334757.1:p.His355=
NM_001347829.2:c.990T>C	NP_001334758.1:p.His330=
NM_001347830.2:c.1029T>C	NP_001334759.1:p.His343=