{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7859863",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.2163C>T (p.Phe721=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=261962",
        "active": true,
        "id": "COSM261962"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466376[alleleid]",
        "alleleId": 466376,
        "preferredName": "NM_000243.3(MEFV):c.2163C>T (p.Phe721=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458000",
        "RCV": [
          "RCV000588308",
          "RCV001083427",
          "RCV002263740",
          "RCV003126805",
          "RCV002431547",
          "RCV003126806"
        ],
        "variationId": 458000
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3293324-G-A",
        "id": "16-3293324-G-A",
        "variant": "16:3293324 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3293324G>A?assembly=hg19",
        "id": "chr16:g.3293324G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3243324G>A?assembly=hg38",
        "id": "chr16:g.3243324G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11466047",
        "rs": 11466047
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3293324-G-A?dataset=gnomad_r2_1",
        "id": "16-3293324-G-A",
        "variant": "16:3293324 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3243324-G-A?dataset=gnomad_r3",
        "id": "16-3243324-G-A",
        "variant": "16:3243324 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3243324-G-A?dataset=gnomad_r4",
        "id": "16-3243324-G-A",
        "variant": "16:3243324 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3243324,
          "referenceAllele": "G",
          "start": 3243323
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3243324G>A",
        "CM000678.2:g.3243324G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3293324,
          "referenceAllele": "G",
          "start": 3293323
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3293324G>A",
        "CM000678.1:g.3293324G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3233325,
          "referenceAllele": "G",
          "start": 3233324
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3233325G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18304,
          "referenceAllele": "C",
          "start": 18303
        }
      ],
      "hgvs": [
        "NG_007871.1:g.18304C>T",
        "LRG_190:g.18304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000697124.1:n.1284C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Phe721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.2163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.2163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Phe721="
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Phe721="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Phe721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.1623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:p.Phe541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "C",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.1530C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:p.Phe510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.*439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:n.*439C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.*439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:n.*439C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2301,
          "referenceAllele": "C",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.*788C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:n.*788C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.1084C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:n.1084C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:n.1705C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.*439C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:n.*439C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.1568C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:n.1568C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.853C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:n.853C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.935C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:n.935C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:n.968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.1700C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:n.1700C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2203,
          "referenceAllele": "C",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.2163C>T",
        "LRG_190t1:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Phe721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.*367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:n.*367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "referenceAllele": "C",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.2160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Phe720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2209,
          "referenceAllele": "C",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.2163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Phe721="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.2163C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.2163C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Phe721="
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Phe721="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.*367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:n.*367C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}