Canonical Allele Identifier: CA109124402

Gene: PDGFC

Linked Data

• dbSNP Id: rs889715364
• gnomAD v2: 4-157720142-G-A
• gnomAD v3: 4-156798990-G-A
• gnomAD v4: 4-156798990-G-A
• MyVariant Identifiers: chr4:g.157720142G>A (hg19) ; chr4:g.156798990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.156798990G>A , CM000666.2:g.156798990G>A	GRCh38
NC_000004.11:g.157720142G>A , CM000666.1:g.157720142G>A	GRCh37
NC_000004.10:g.157939592G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000502773.6:c.495+11847C>T MANE Select	ENSP00000422464.1:n.495+11847C>T
ENST00000274071.6:c.*403+11847C>T	ENSP00000274071.2:n.*403+11847C>T
ENST00000422544.2:c.495+11847C>T	ENSP00000410048.2:n.495+11847C>T
ENST00000502773.5:c.495+11847C>T	ENSP00000422464.1:n.495+11847C>T
ENST00000506880.5:c.149+11847C>T
ENST00000511985.1:n.55+11847C>T
ENST00000512711.1:n.418-26097C>T
NM_016205.2:c.495+11847C>T	NP_057289.1:n.495+11847C>T
NR_036641.1:n.1047+11847C>T
XM_011532124.1:c.462+11847C>T	XP_011530426.1:n.462+11847C>T
XM_011532125.1:c.426+11847C>T	XP_011530427.1:n.426+11847C>T
XM_011532124.2:c.462+11847C>T	XP_011530426.1:n.462+11847C>T
XM_017008455.1:c.390+11847C>T	XP_016863944.1:n.390+11847C>T
XM_017008456.2:c.495+11847C>T	XP_016863945.1:n.495+11847C>T
NM_016205.3:c.495+11847C>T MANE Select	NP_057289.1:n.495+11847C>T
NR_036641.2:n.1452+11847C>T