{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA503874084",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.960T>C (p.Pro320=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=785950[alleleid]",
        "alleleId": 785950,
        "preferredName": "NM_005359.6(SMAD4):c.960T>C (p.Pro320=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/792705",
        "RCV": [
          "RCV000975838",
          "RCV001192754",
          "RCV002382198",
          "RCV003156301"
        ],
        "variationId": 792705
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48591797T>C?assembly=hg19",
        "id": "chr18:g.48591797T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1568208159",
        "rs": 1568208159
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-51065427-T-C?dataset=gnomad_r3",
        "id": "18-51065427-T-C",
        "variant": "18:51065427 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-51065427-T-C?dataset=gnomad_r4",
        "id": "18-51065427-T-C",
        "variant": "18:51065427 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 51065427,
          "referenceAllele": "T",
          "start": 51065426
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51065427T>C",
        "CM000680.2:g.51065427T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 48591797,
          "referenceAllele": "T",
          "start": 48591796
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48591797T>C",
        "CM000680.1:g.48591797T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 46845795,
          "referenceAllele": "T",
          "start": 46845794
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46845795T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 102388,
          "referenceAllele": "T",
          "start": 102387
        }
      ],
      "hgvs": [
        "NG_013013.2:g.102388T>C",
        "LRG_318:g.102388T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1225,
          "referenceAllele": "T",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "T",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1667,
          "referenceAllele": "T",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "T",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "T",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "referenceAllele": "T",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2332,
          "referenceAllele": "T",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000684953.1:n.2332T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685090.1:n.1411T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000685232.1:n.1068T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "referenceAllele": "T",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688307.1:n.211T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1068,
          "referenceAllele": "T",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688574.1:n.1068T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000688903.1:n.1174T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2442,
          "referenceAllele": "T",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000691124.1:n.2442T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.960T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.960T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Pro320="
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Pro320="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1218,
          "referenceAllele": "T",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.672T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Pro224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2961,
          "referenceAllele": "T",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591126.5:n.2961T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 5511,
          "referenceAllele": "T",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 5510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.955+5511T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:n.955+5511T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 160,
          "referenceAllele": "T",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.1:c.160T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602876",
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.960T>C",
        "LRG_318t1:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602876",
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "T",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.960T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.960T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.960T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Pro320="
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Pro320="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}