Canonical Allele Identifier: CA10814239
Gene: PTGFRN HGNC NCBI
COSMIC:
COSN17139151 (not active)
COSN17140882 (not active)
COSN17141901 (not active)
MyVariant.info:
GRCh38 chr1:g.116927159C>G
GRCh37 chr1:g.117469781C>G
gnomAD v2:
1:117469781 C / G
gnomAD v3:
1:116927159 C / G
gnomAD v4:
chr1-116927159-C-G
Joint Max Group AF 0.43915134 (AFR)
Genomes Max Group AF 0.43915134 (AFR)
dbSNP:
2806864
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116927159C>G , CM000663.2:g.116927159C>G GRCh38
NC_000001.10:g.117469781C>G , CM000663.1:g.117469781C>G GRCh37
NC_000001.9:g.117271304C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393203.3:c.50-14556C>G MANE Select ENSP00000376899.2:n.50-14556C>G
ENST00000393203.2:c.50-14556C>G ENSP00000376899.2:n.50-14556C>G
NM_020440.3:c.50-14556C>G NP_065173.2:n.50-14556C>G
NM_020440.4:c.50-14556C>G MANE Select NP_065173.2:n.50-14556C>G
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