{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140496143",
  "communityStandardTitle": [
    "NM_006147.4(IRF6):c.1198C= (p.Arg400=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28942095",
        "rs": 28942095
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370212644",
        "rs": 370212644
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209788626,
          "referenceAllele": "G",
          "start": 209788625
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209788626G=",
        "CM000663.2:g.209788626G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 209961971,
          "referenceAllele": "G",
          "start": 209961970
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209961971G=",
        "CM000663.1:g.209961971G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 208028594,
          "referenceAllele": "G",
          "start": 208028593
        }
      ],
      "hgvs": [
        "NC_000001.9:g.208028594G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22509,
          "referenceAllele": "C",
          "start": 22508
        }
      ],
      "hgvs": [
        "NG_007081.2:g.22509C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000461"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "hgvs": [
        "ENST00000696133.1:c.1198C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512426.1:p.Arg400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000696134.1:c.*625C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512427.1:n.*625C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.8:c.1198C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Arg400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.1198C="
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.1198C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Arg400="
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Arg400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000643798.1:c.*708C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496669.1:n.*708C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000367021.7:c.1198C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355988.3:p.Arg400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "ENST00000542854.5:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440532.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.1:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888722",
      "coordinates": [
        {
          "allele": "C",
          "end": 1502,
          "referenceAllele": "C",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.3:c.1198C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Arg400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063888722",
      "coordinates": [
        {
          "allele": "C",
          "end": 1469,
          "referenceAllele": "C",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_006147.4:c.1198C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006138.1:p.Arg400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367021.8:c.1198C="
          },
          "RefSeq": {
            "hgvs": "NM_006147.4:c.1198C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355988.3:p.Arg400="
          },
          "RefSeq": {
            "hgvs": "NP_006138.1:p.Arg400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006121",
      "geneNCBI_id": 3664,
      "geneSymbol": "IRF6",
      "hgvs": [
        "NM_001206696.2:c.913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001193625.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714222"
    }
  ],
  "type": "nucleotide"
}