Canonical Allele Identifier: CA29715857
Gene: PTGFRN HGNC NCBI

Linked Data

dbSNP Id: rs573573074
gnomAD v2: 1-117467875-C-T
gnomAD v3: 1-116925253-C-T
gnomAD v4: 1-116925253-C-T
MyVariant Identifiers: chr1:g.117467875C>T (hg19) chr1:g.116925253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116925253C>T , CM000663.2:g.116925253C>T GRCh38
NC_000001.10:g.117467875C>T , CM000663.1:g.117467875C>T GRCh37
NC_000001.9:g.117269398C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393203.3:c.49+15001C>T MANE Select ENSP00000376899.2:n.49+15001C>T
ENST00000393203.2:c.49+15001C>T ENSP00000376899.2:n.49+15001C>T
NM_020440.3:c.49+15001C>T NP_065173.2:n.49+15001C>T
NM_020440.4:c.49+15001C>T MANE Select NP_065173.2:n.49+15001C>T
Search 100 bp 5'
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