Canonical Allele Identifier: CA525449486
Gene: PTGFRN HGNC NCBI

Linked Data

dbSNP Id: rs753451
gnomAD v2: 1-117467834-G-C
gnomAD v3: 1-116925212-G-C
gnomAD v4: 1-116925212-G-C
MyVariant Identifiers: chr1:g.117467834G>C (hg19) chr1:g.116925212G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116925212G>C , CM000663.2:g.116925212G>C GRCh38
NC_000001.10:g.117467834G>C , CM000663.1:g.117467834G>C GRCh37
NC_000001.9:g.117269357G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000393203.3:c.49+14960G>C MANE Select ENSP00000376899.2:n.49+14960G>C
ENST00000393203.2:c.49+14960G>C ENSP00000376899.2:n.49+14960G>C
NM_020440.3:c.49+14960G>C NP_065173.2:n.49+14960G>C
NM_020440.4:c.49+14960G>C MANE Select NP_065173.2:n.49+14960G>C
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