Canonical Allele Identifier: CA2922995
Gene: PDGFRA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.54290374G>A
GRCh37 chr4:g.55156541G>A
Revel Score:
ENST00000507166 0.451
ENST00000257290 (MANE Select) 0.451
gnomAD v2:
4:55156541 G / A
gnomAD v3:
4:54290374 G / A
gnomAD v4:
chr4-54290374-G-A
Joint Max Group AF 0.00049993 (EAS)
Genomes Max Group AF 0.00006828 (EAS)
Exomes Max Group AF 0.00052223 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54290374G>A , CM000666.2:g.54290374G>A GRCh38
NC_000004.11:g.55156541G>A , CM000666.1:g.55156541G>A GRCh37
NC_000004.10:g.54851298G>A NCBI36
NG_009250.1:g.66278G>A , LRG_309:g.66278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000257290.10:c.2942G>A MANE Select ENSP00000257290.5:p.Arg981His
ENST00000257290.9:c.2942G>A ENSP00000257290.5:p.Arg981His
ENST00000507166.5:c.2222G>A ENSP00000423325.1:p.Arg741His
NM_006206.4:c.2942G>A , LRG_309t1:c.2942G>A NP_006197.1:p.Arg981His
XM_005265743.1:c.2942G>A XP_005265800.1:p.Arg981His
XM_006714039.2:c.3017G>A XP_006714102.1:p.Arg1006His
XM_011534385.1:c.2942G>A XP_011532687.1:p.Arg981His
XM_011534386.1:c.2942G>A XP_011532688.1:p.Arg981His
NM_001347828.1:c.3017G>A NP_001334757.1:p.Arg1006His
NM_001347829.1:c.2942G>A NP_001334758.1:p.Arg981His
NM_001347830.1:c.2981G>A NP_001334759.1:p.Arg994His
NM_006206.5:c.2942G>A NP_006197.1:p.Arg981His
NM_006206.6:c.2942G>A MANE Select NP_006197.1:p.Arg981His
NM_001347828.2:c.3017G>A NP_001334757.1:p.Arg1006His
NM_001347829.2:c.2942G>A NP_001334758.1:p.Arg981His
NM_001347830.2:c.2981G>A NP_001334759.1:p.Arg994His
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