{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324404",
  "communityStandardTitle": [
    "NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1708328",
        "active": true,
        "id": "COSM1708328"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1708329",
        "active": true,
        "id": "COSM1708329"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210295[alleleid]",
        "alleleId": 210295,
        "preferredName": "NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213774",
        "RCV": [
          "RCV000199856",
          "RCV000553894",
          "RCV001374826",
          "RCV003640877"
        ],
        "variationId": 213774
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67479810C>T?assembly=hg19",
        "id": "chr15:g.67479810C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.67187472C>T?assembly=hg38",
        "id": "chr15:g.67187472C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223746",
        "rs": 863223746
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67187472-C-T?dataset=gnomad_r3",
        "id": "15-67187472-C-T",
        "variant": "15:67187472 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-67187472-C-T?dataset=gnomad_r4",
        "id": "15-67187472-C-T",
        "variant": "15:67187472 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67187472,
          "referenceAllele": "C",
          "start": 67187471
        }
      ],
      "hgvs": [
        "NC_000015.10:g.67187472C>T",
        "CM000677.2:g.67187472C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67479810,
          "referenceAllele": "C",
          "start": 67479809
        }
      ],
      "hgvs": [
        "NC_000015.9:g.67479810C>T",
        "CM000677.1:g.67479810C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65266864,
          "referenceAllele": "C",
          "start": 65266863
        }
      ],
      "hgvs": [
        "NC_000015.8:g.65266864C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126616,
          "referenceAllele": "C",
          "start": 126615
        }
      ],
      "hgvs": [
        "NG_011990.1:g.126616C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558428.6:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454165.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000454165.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558739.2:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453684.2:p.Arg268Cys",
        "hgvsWellDefined": "ENSP00000453684.2:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558827.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452767.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000452767.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000559460.6:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453082.2:p.Arg268Cys",
        "hgvsWellDefined": "ENSP00000453082.2:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.2:c.1228C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455540.2:p.Arg410Cys",
        "hgvsWellDefined": "ENSP00000455540.2:p.Arg410Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.9:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Arg373Cys",
        "hgvsWellDefined": "ENSP00000332973.4:p.Arg373Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Arg373Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Arg373Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000679624.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505445.1:p.Arg268Cys",
        "hgvsWellDefined": "ENSP00000505445.1:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000680689.1:n.820C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000681239.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505641.1:p.Arg268Cys",
        "hgvsWellDefined": "ENSP00000505641.1:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000327367.8:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332973.4:p.Arg373Cys",
        "hgvsWellDefined": "ENSP00000332973.4:p.Arg373Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000439724.7:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401133.3:p.Arg329Cys",
        "hgvsWellDefined": "ENSP00000401133.3:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000537194.6:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445348.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000445348.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000540846.6:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437757.2:p.Arg268Cys",
        "hgvsWellDefined": "ENSP00000437757.2:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "C",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000558763.1:n.811C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "endIntronDirection": "-",
          "endIntronOffset": 5400,
          "referenceAllele": "C",
          "start": 282,
          "startIntronDirection": "-",
          "startIntronOffset": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560402.1:n.283-5401C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "ENST00000560424.1:c.309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881013",
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Arg268Cys",
        "hgvsWellDefined": "NP_001138574.1:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881480",
      "coordinates": [
        {
          "allele": "T",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Arg329Cys",
        "hgvsWellDefined": "NP_001138575.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881747",
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001138576.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013468"
    },
    {
      "@id": "http://reg.genome.network/allele/PA324405",
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.3:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Arg373Cys",
        "hgvsWellDefined": "NP_005893.1:p.Arg373Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.1:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Arg329Cys",
        "hgvsWellDefined": "XP_011519861.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521560.1:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519862.1:p.Arg324Cys",
        "hgvsWellDefined": "XP_011519862.1:p.Arg324Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "XM_011521559.3:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519861.1:p.Arg329Cys",
        "hgvsWellDefined": "XP_011519861.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA324405",
      "coordinates": [
        {
          "allele": "T",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_005902.4:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005893.1:p.Arg373Cys",
        "hgvsWellDefined": "NP_005893.1:p.Arg373Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327367.9:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005902.4:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332973.4:p.Arg373Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005893.1:p.Arg373Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881013",
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145102.2:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138574.1:p.Arg268Cys",
        "hgvsWellDefined": "NP_001138574.1:p.Arg268Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881480",
      "coordinates": [
        {
          "allele": "T",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145103.2:c.985C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138575.1:p.Arg329Cys",
        "hgvsWellDefined": "NP_001138575.1:p.Arg329Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825881747",
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006769",
      "geneNCBI_id": 4088,
      "geneSymbol": "SMAD3",
      "hgvs": [
        "NM_001145104.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138576.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001138576.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712753"
    }
  ],
  "type": "nucleotide"
}