Canonical Allele Identifier: CA439287207

Gene: PDGFRA

Linked Data

• ClinVar Variation Id: 2725350
• ClinVar RCV Id: RCV003526907
• dbSNP Id: rs143003840
• gnomAD v4: 4-54274925-C-T
• MyVariant Identifiers: chr4:g.55141092C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54274925C>T , CM000666.2:g.54274925C>T	GRCh38
NC_000004.11:g.55141092C>T , CM000666.1:g.55141092C>T	GRCh37
NC_000004.10:g.54835849C>T	NCBI36
NG_009250.1:g.50829C>T , LRG_309:g.50829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257290.10:c.1738C>T MANE Select	ENSP00000257290.5:p.Leu580=
ENST00000257290.9:c.1738C>T	ENSP00000257290.5:p.Leu580=
ENST00000507166.5:c.1018C>T	ENSP00000423325.1:p.Leu340=
ENST00000509092.5:n.1556C>T
ENST00000509490.5:c.1738C>T	ENSP00000424218.1:p.Leu580=
NM_006206.4:c.1738C>T , LRG_309t1:c.1738C>T	NP_006197.1:p.Leu580=
XM_005265743.1:c.1738C>T	XP_005265800.1:p.Leu580=
XM_006714039.2:c.1813C>T	XP_006714102.1:p.Leu605=
XM_006714041.2:c.1813C>T	XP_006714104.1:p.Leu605=
XM_011534385.1:c.1738C>T	XP_011532687.1:p.Leu580=
XM_011534386.1:c.1738C>T	XP_011532688.1:p.Leu580=
NM_001347827.1:c.1738C>T	NP_001334756.1:p.Leu580=
NM_001347828.1:c.1813C>T	NP_001334757.1:p.Leu605=
NM_001347829.1:c.1738C>T	NP_001334758.1:p.Leu580=
NM_001347830.1:c.1777C>T	NP_001334759.1:p.Leu593=
NM_006206.5:c.1738C>T	NP_006197.1:p.Leu580=
XM_006714041.3:c.1813C>T	XP_006714104.1:p.Leu605=
XM_017008281.1:c.1777C>T	XP_016863770.1:p.Leu593=
NM_006206.6:c.1738C>T MANE Select	NP_006197.1:p.Leu580=
NM_001347827.2:c.1738C>T	NP_001334756.1:p.Leu580=
NM_001347828.2:c.1813C>T	NP_001334757.1:p.Leu605=
NM_001347829.2:c.1738C>T	NP_001334758.1:p.Leu580=
NM_001347830.2:c.1777C>T	NP_001334759.1:p.Leu593=