{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA225381022",
  "communityStandardTitle": [
    "NM_012193.4(FZD4):c.957G>A (p.Trp319Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86662841C>T?assembly=hg19",
        "id": "chr11:g.86662841C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.86951799C>T?assembly=hg38",
        "id": "chr11:g.86951799C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358291",
        "rs": 80358291
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-86951799-C-T?dataset=gnomad_r4",
        "id": "11-86951799-C-T",
        "variant": "11:86951799 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86951799,
          "referenceAllele": "C",
          "start": 86951798
        }
      ],
      "hgvs": [
        "NC_000011.10:g.86951799C>T",
        "CM000673.2:g.86951799C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86662841,
          "referenceAllele": "C",
          "start": 86662840
        }
      ],
      "hgvs": [
        "NC_000011.9:g.86662841C>T",
        "CM000673.1:g.86662841C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 86340489,
          "referenceAllele": "C",
          "start": 86340488
        }
      ],
      "hgvs": [
        "NC_000011.8:g.86340489C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8593,
          "referenceAllele": "G",
          "start": 8592
        }
      ],
      "hgvs": [
        "NG_011752.1:g.8593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001950"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Trp319Ter",
        "hgvsWellDefined": "ENSP00000434034.1:p.Trp320_Val537delinsValIleLeuThrLeuThrTrpPheLeuAlaAlaGlyLeuLysTrpGlyHisGluAlaIleGluMetHisSerSerTyrPheHisIleAlaAlaTrpAlaIleProAlaValLysThrIleValIleLeuIleMetArgLeuValAspAlaAspGluLeuThrGlyLeuCysTyrValGlyAsnGlnAsnLeuAspAlaLeuThrGlyPheValValAlaProLeuPheThrTyrLeuValIleGlyThrLeuPheIleAlaAlaGlyLeuValAlaLeuPheLysIleArgSerAsnLeuGlnLysAspGlyThrLysThrAspLysLeuGluArgLeuMetValLysIleGlyValPheSerValLeuTyrThrValProAlaThrCysValIleAlaCysTyrPheTyrGluIleSerAsnTrpAlaLeuPheArgTyrSerAlaAspAspSerAsnMetAlaValGluMetLeuLysIlePheMetSerLeuLeuValGlyIleThrSerGlyMetTrpIleTrpSerAlaLysThrLeuHisThrTrpGlnLysCysSerAsnArgLeuValAsnSerGlyLysValLysArgGluLysArgGlyAsnGlyTrpValLysProGlyLysGlySerGluThrValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Trp319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Trp319Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Trp319Ter",
        "hgvsWellDefined": "ENSP00000434034.1:p.Trp320_Val537delinsValIleLeuThrLeuThrTrpPheLeuAlaAlaGlyLeuLysTrpGlyHisGluAlaIleGluMetHisSerSerTyrPheHisIleAlaAlaTrpAlaIleProAlaValLysThrIleValIleLeuIleMetArgLeuValAspAlaAspGluLeuThrGlyLeuCysTyrValGlyAsnGlnAsnLeuAspAlaLeuThrGlyPheValValAlaProLeuPheThrTyrLeuValIleGlyThrLeuPheIleAlaAlaGlyLeuValAlaLeuPheLysIleArgSerAsnLeuGlnLysAspGlyThrLysThrAspLysLeuGluArgLeuMetValLysIleGlyValPheSerValLeuTyrThrValProAlaThrCysValIleAlaCysTyrPheTyrGluIleSerAsnTrpAlaLeuPheArgTyrSerAlaAspAspSerAsnMetAlaValGluMetLeuLysIlePheMetSerLeuLeuValGlyIleThrSerGlyMetTrpIleTrpSerAlaLysThrLeuHisThrTrpGlnLysCysSerAsnArgLeuValAsnSerGlyLysValLysArgGluLysArgGlyAsnGlyTrpValLysProGlyLysGlySerGluThrValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000532234.5:c.*792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436676.1:n.*792C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000533902.2:c.*514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437268.1:n.*514C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709520",
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.3:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Trp319Ter",
        "hgvsWellDefined": "NP_036325.2:p.Trp320_Val537delinsValIleLeuThrLeuThrTrpPheLeuAlaAlaGlyLeuLysTrpGlyHisGluAlaIleGluMetHisSerSerTyrPheHisIleAlaAlaTrpAlaIleProAlaValLysThrIleValIleLeuIleMetArgLeuValAspAlaAspGluLeuThrGlyLeuCysTyrValGlyAsnGlnAsnLeuAspAlaLeuThrGlyPheValValAlaProLeuPheThrTyrLeuValIleGlyThrLeuPheIleAlaAlaGlyLeuValAlaLeuPheLysIleArgSerAsnLeuGlnLysAspGlyThrLysThrAspLysLeuGluArgLeuMetValLysIleGlyValPheSerValLeuTyrThrValProAlaThrCysValIleAlaCysTyrPheTyrGluIleSerAsnTrpAlaLeuPheArgTyrSerAlaAspAspSerAsnMetAlaValGluMetLeuLysIlePheMetSerLeuLeuValGlyIleThrSerGlyMetTrpIleTrpSerAlaLysThrLeuHisThrTrpGlnLysCysSerAsnArgLeuValAsnSerGlyLysValLysArgGluLysArgGlyAsnGlyTrpValLysProGlyLysGlySerGluThrValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.1:n.1464C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.1:n.1213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.2:n.1162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.2:n.911C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709520",
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.4:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Trp319Ter",
        "hgvsWellDefined": "NP_036325.2:p.Trp320_Val537delinsValIleLeuThrLeuThrTrpPheLeuAlaAlaGlyLeuLysTrpGlyHisGluAlaIleGluMetHisSerSerTyrPheHisIleAlaAlaTrpAlaIleProAlaValLysThrIleValIleLeuIleMetArgLeuValAspAlaAspGluLeuThrGlyLeuCysTyrValGlyAsnGlnAsnLeuAspAlaLeuThrGlyPheValValAlaProLeuPheThrTyrLeuValIleGlyThrLeuPheIleAlaAlaGlyLeuValAlaLeuPheLysIleArgSerAsnLeuGlnLysAspGlyThrLysThrAspLysLeuGluArgLeuMetValLysIleGlyValPheSerValLeuTyrThrValProAlaThrCysValIleAlaCysTyrPheTyrGluIleSerAsnTrpAlaLeuPheArgTyrSerAlaAspAspSerAsnMetAlaValGluMetLeuLysIlePheMetSerLeuLeuValGlyIleThrSerGlyMetTrpIleTrpSerAlaLysThrLeuHisThrTrpGlnLysCysSerAsnArgLeuValAsnSerGlyLysValLysArgGluLysArgGlyAsnGlyTrpValLysProGlyLysGlySerGluThrValValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Trp319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Trp319Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.3:n.1162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730739"
    }
  ],
  "type": "nucleotide"
}