{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA420928858",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.6109C>A (p.Arg2037=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5461995",
        "active": true,
        "id": "COSM5461995"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.152281253G>T?assembly=hg19",
        "id": "chr1:g.152281253G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200002200",
        "rs": 200002200
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-152308777-G-T?dataset=gnomad_r4",
        "id": "1-152308777-G-T",
        "variant": "1:152308777 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152308777,
          "referenceAllele": "G",
          "start": 152308776
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152308777G>T",
        "CM000663.2:g.152308777G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152281253,
          "referenceAllele": "G",
          "start": 152281252
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152281253G>T",
        "CM000663.1:g.152281253G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 150547877,
          "referenceAllele": "G",
          "start": 150547876
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150547877G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21427,
          "referenceAllele": "C",
          "start": 21426
        }
      ],
      "hgvs": [
        "NG_016190.1:g.21427C>A",
        "LRG_1028:g.21427C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6181,
          "referenceAllele": "C",
          "start": 6180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.6109C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Arg2037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.6109C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.6109C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Arg2037="
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Arg2037="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6145,
          "referenceAllele": "C",
          "start": 6144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.6109C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Arg2037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064011878",
      "coordinates": [
        {
          "allele": "A",
          "end": 6145,
          "referenceAllele": "C",
          "start": 6144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.6109C>A",
        "LRG_1028t1:c.6109C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Arg2037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6199,
          "referenceAllele": "C",
          "start": 6198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.6109C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:p.Arg2037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064011878",
      "coordinates": [
        {
          "allele": "A",
          "end": 6181,
          "referenceAllele": "C",
          "start": 6180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.6109C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Arg2037="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.6109C>A"
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.6109C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Arg2037="
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Arg2037="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}