Canonical Allele Identifier: CA109120384

Gene: PDGFC

Linked Data

• dbSNP Id: rs551094317
• gnomAD v2: 4-157683634-T-A
• gnomAD v3: 4-156762482-T-A
• gnomAD v4: 4-156762482-T-A
• MyVariant Identifiers: chr4:g.157683634T>A (hg19) ; chr4:g.156762482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.156762482T>A , CM000666.2:g.156762482T>A	GRCh38
NC_000004.11:g.157683634T>A , CM000666.1:g.157683634T>A	GRCh37
NC_000004.10:g.157903084T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502773.6:c.*608A>T MANE Select	ENSP00000422464.1:n.*608A>T
ENST00000274071.6:c.*1554A>T	ENSP00000274071.2:n.*1554A>T
ENST00000502773.5:c.*608A>T	ENSP00000422464.1:n.*608A>T
NM_016205.2:c.*608A>T	NP_057289.1:n.*608A>T
NR_036641.1:n.2198A>T
XM_011532124.1:c.*608A>T	XP_011530426.1:n.*608A>T
XM_011532125.1:c.*608A>T	XP_011530427.1:n.*608A>T
XM_011532124.2:c.*608A>T	XP_011530426.1:n.*608A>T
XM_017008455.1:c.*608A>T	XP_016863944.1:n.*608A>T
XM_017008456.2:c.*608A>T	XP_016863945.1:n.*608A>T
NM_016205.3:c.*608A>T MANE Select	NP_057289.1:n.*608A>T
NR_036641.2:n.2603A>T