Canonical Allele Identifier: CA109120379

Gene: PDGFC

Linked Data

• dbSNP Id: rs187684513
• gnomAD v2: 4-157683606-A-T
• gnomAD v3: 4-156762454-A-T
• gnomAD v4: 4-156762454-A-T
• MyVariant Identifiers: chr4:g.157683606A>T (hg19) ; chr4:g.156762454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.156762454A>T , CM000666.2:g.156762454A>T	GRCh38
NC_000004.11:g.157683606A>T , CM000666.1:g.157683606A>T	GRCh37
NC_000004.10:g.157903056A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502773.6:c.*636T>A MANE Select	ENSP00000422464.1:n.*636T>A
ENST00000274071.6:c.*1582T>A	ENSP00000274071.2:n.*1582T>A
ENST00000502773.5:c.*636T>A	ENSP00000422464.1:n.*636T>A
NM_016205.2:c.*636T>A	NP_057289.1:n.*636T>A
NR_036641.1:n.2226T>A
XM_011532124.1:c.*636T>A	XP_011530426.1:n.*636T>A
XM_011532125.1:c.*636T>A	XP_011530427.1:n.*636T>A
XM_011532124.2:c.*636T>A	XP_011530426.1:n.*636T>A
XM_017008455.1:c.*636T>A	XP_016863944.1:n.*636T>A
XM_017008456.2:c.*636T>A	XP_016863945.1:n.*636T>A
NM_016205.3:c.*636T>A MANE Select	NP_057289.1:n.*636T>A
NR_036641.2:n.2631T>A