Canonical Allele Identifier: CA15318145
Gene: PDGFC HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.156762533C>T
GRCh37 chr4:g.157683685C>T
gnomAD v2:
4:157683685 C / T
gnomAD v3:
4:156762533 C / T
gnomAD v4:
chr4-156762533-C-T
Joint Max Group AF 0.76312671 (AFR)
Genomes Max Group AF 0.76312671 (AFR)
Exomes Max Group AF 0.13663143 (NFE)
dbSNP:
1425486
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.156762533C>T , CM000666.2:g.156762533C>T GRCh38
NC_000004.11:g.157683685C>T , CM000666.1:g.157683685C>T GRCh37
NC_000004.10:g.157903135C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502773.6:c.*557G>A MANE Select ENSP00000422464.1:n.*557G>A
ENST00000274071.6:c.*1503G>A ENSP00000274071.2:n.*1503G>A
ENST00000502773.5:c.*557G>A ENSP00000422464.1:n.*557G>A
NM_016205.2:c.*557G>A NP_057289.1:n.*557G>A
NR_036641.1:n.2147G>A
XM_011532124.1:c.*557G>A XP_011530426.1:n.*557G>A
XM_011532125.1:c.*557G>A XP_011530427.1:n.*557G>A
XM_011532124.2:c.*557G>A XP_011530426.1:n.*557G>A
XM_017008455.1:c.*557G>A XP_016863944.1:n.*557G>A
XM_017008456.2:c.*557G>A XP_016863945.1:n.*557G>A
NM_016205.3:c.*557G>A MANE Select NP_057289.1:n.*557G>A
NR_036641.2:n.2552G>A
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