{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA476144300",
  "communityStandardTitle": [
    "NM_012193.4(FZD4):c.1453T>C (p.Leu485=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1100695[alleleid]",
        "alleleId": 1100695,
        "preferredName": "NM_012193.4(FZD4):c.1453T>C (p.Leu485=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1105195",
        "RCV": [
          "RCV001429468"
        ],
        "variationId": 1105195
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86662345A>G?assembly=hg19",
        "id": "chr11:g.86662345A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86951303A>G?assembly=hg38",
        "id": "chr11:g.86951303A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1337951190",
        "rs": 1337951190
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-86662345-A-G?dataset=gnomad_r2_1",
        "id": "11-86662345-A-G",
        "variant": "11:86662345 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-86951303-A-G?dataset=gnomad_r4",
        "id": "11-86951303-A-G",
        "variant": "11:86951303 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 86951303,
          "referenceAllele": "A",
          "start": 86951302
        }
      ],
      "hgvs": [
        "NC_000011.10:g.86951303A>G",
        "CM000673.2:g.86951303A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 86662345,
          "referenceAllele": "A",
          "start": 86662344
        }
      ],
      "hgvs": [
        "NC_000011.9:g.86662345A>G",
        "CM000673.1:g.86662345A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 86339993,
          "referenceAllele": "A",
          "start": 86339992
        }
      ],
      "hgvs": [
        "NC_000011.8:g.86339993A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9089,
          "referenceAllele": "T",
          "start": 9088
        }
      ],
      "hgvs": [
        "NG_011752.1:g.9089T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001950"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.2:c.1453T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Leu485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1453T>C"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1453T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Leu485="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Leu485="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000528769.5:n.360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.1:c.1453T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Leu485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "A",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000531521.1:n.474A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "referenceAllele": "A",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000532234.5:c.*296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436676.1:n.*296A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000533902.2:c.*18A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437268.1:n.*18A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724449",
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.3:c.1453T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Leu485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 968,
          "referenceAllele": "A",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.1:n.968A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "referenceAllele": "A",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.1:n.717A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "A",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.2:n.666A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.2:n.415A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724449",
      "coordinates": [
        {
          "allele": "C",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.4:c.1453T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Leu485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1453T>C"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1453T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Leu485="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Leu485="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 666,
          "referenceAllele": "A",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.3:n.666A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730739"
    }
  ],
  "type": "nucleotide"
}