{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1377237",
  "communityStandardTitle": [
    "NM_006147.4(IRF6):c.888C>T (p.Asp296=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4027765",
        "active": true,
        "id": "COSM4027765"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863441[alleleid]",
        "alleleId": 863441,
        "preferredName": "NM_006147.4(IRF6):c.888C>T (p.Asp296=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873581",
        "RCV": [
          "RCV001095858",
          "RCV001097657",
          "RCV002557973"
        ],
        "variationId": 873581
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-209964012-G-A",
        "id": "1-209964012-G-A",
        "variant": "1:209964012 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209964012G>A?assembly=hg19",
        "id": "chr1:g.209964012G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209790667G>A?assembly=hg38",
        "id": "chr1:g.209790667G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748882482",
        "rs": 748882482
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209964012-G-A?dataset=gnomad_r2_1",
        "id": "1-209964012-G-A",
        "variant": "1:209964012 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209790667-G-A?dataset=gnomad_r3",
        "id": "1-209790667-G-A",
        "variant": "1:209790667 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209790667-G-A?dataset=gnomad_r4",
        "id": "1-209790667-G-A",
        "variant": "1:209790667 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209790667,
          "referenceAllele": "G",
          "start": 209790666
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209790667G>A",
        "CM000663.2:g.209790667G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209964012,
          "referenceAllele": "G",
          "start": 209964011
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209964012G>A",
        "CM000663.1:g.209964012G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 208030635,
          "referenceAllele": "G",
          "start": 208030634
        }
      ],
      "hgvs": [
        "NC_000001.9:g.208030635G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20468,
          "referenceAllele": "C",
          "start": 20467
        }
      ],
      "hgvs": [
        "NG_007081.2:g.20468C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000461"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "hgvs": [
        "ENST00000696133.1:c.888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512426.1:p.Asp296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000696134.1:c.*315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512427.1:n.*315C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.8:c.888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Asp296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.888C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.888C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Asp296="
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Asp296="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000643798.1:c.*398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496669.1:n.*398C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.7:c.888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Asp296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000542854.5:c.603C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440532.1:p.Asp201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826285324",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.1:c.603C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:p.Asp201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829632557",
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.3:c.888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Asp296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829632557",
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.4:c.888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Asp296="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.888C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.888C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Asp296="
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Asp296="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826285324",
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.2:c.603C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:p.Asp201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714222"
    }
  ],
  "type": "nucleotide"
}