{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16077937",
  "communityStandardTitle": [
    "NM_006147.4(IRF6):c.-75-1723T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209977111A>G?assembly=hg19",
        "id": "chr1:g.209977111A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209803766A>G?assembly=hg38",
        "id": "chr1:g.209803766A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/861020",
        "rs": 861020
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209977111-A-G?dataset=gnomad_r2_1",
        "id": "1-209977111-A-G",
        "variant": "1:209977111 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209803766-A-G?dataset=gnomad_r3",
        "id": "1-209803766-A-G",
        "variant": "1:209803766 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209803766-A-G?dataset=gnomad_r4",
        "id": "1-209803766-A-G",
        "variant": "1:209803766 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209803766,
          "referenceAllele": "A",
          "start": 209803765
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209803766A>G",
        "CM000663.2:g.209803766A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209977111,
          "referenceAllele": "A",
          "start": 209977110
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209977111A>G",
        "CM000663.1:g.209977111A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 208043734,
          "referenceAllele": "A",
          "start": 208043733
        }
      ],
      "hgvs": [
        "NC_000001.9:g.208043734A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7369,
          "referenceAllele": "T",
          "start": 7368
        }
      ],
      "hgvs": [
        "NG_007081.2:g.7369T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000461"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 233,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "hgvs": [
        "ENST00000696133.1:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512426.1:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000696134.1:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512427.1:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 196,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.8:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.-75-1723T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.-75-1723T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:n.-75-1723T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:n.-75-1723T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 98,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.7:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 2181,
          "referenceAllele": "T",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000542854.5:c.-112+2181T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440532.1:n.-112+2181T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 2181,
          "referenceAllele": "T",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.1:c.-112+2181T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:n.-112+2181T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.3:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "endIntronDirection": "-",
          "endIntronOffset": 1722,
          "referenceAllele": "T",
          "start": 196,
          "startIntronDirection": "-",
          "startIntronOffset": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.4:c.-75-1723T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:n.-75-1723T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.-75-1723T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.-75-1723T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:n.-75-1723T>C"
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:n.-75-1723T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "endIntronDirection": "+",
          "endIntronOffset": 2181,
          "referenceAllele": "T",
          "start": 196,
          "startIntronDirection": "+",
          "startIntronOffset": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.2:c.-112+2181T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:n.-112+2181T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714222"
    }
  ],
  "type": "nucleotide"
}