{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7860114",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1377696",
        "active": true,
        "id": "COSM1377696"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1377697",
        "active": true,
        "id": "COSM1377697"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=530253[alleleid]",
        "alleleId": 530253,
        "preferredName": "NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/527800",
        "RCV": [
          "RCV000632788",
          "RCV002507067",
          "RCV003126880",
          "RCV003126879"
        ],
        "variationId": 527800
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3297099-C-T",
        "id": "16-3297099-C-T",
        "variant": "16:3297099 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3297099C>T?assembly=hg19",
        "id": "chr16:g.3297099C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3247099C>T?assembly=hg38",
        "id": "chr16:g.3247099C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140462252",
        "rs": 140462252
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3297099-C-T?dataset=gnomad_r2_1",
        "id": "16-3297099-C-T",
        "variant": "16:3297099 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3247099-C-T?dataset=gnomad_r3",
        "id": "16-3247099-C-T",
        "variant": "16:3247099 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3247099-C-T?dataset=gnomad_r4",
        "id": "16-3247099-C-T",
        "variant": "16:3247099 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3247099,
          "referenceAllele": "C",
          "start": 3247098
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3247099C>T",
        "CM000678.2:g.3247099C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3297099,
          "referenceAllele": "C",
          "start": 3297098
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3297099C>T",
        "CM000678.1:g.3297099C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 3237100,
          "referenceAllele": "C",
          "start": 3237099
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3237100C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14529,
          "referenceAllele": "G",
          "start": 14528
        }
      ],
      "hgvs": [
        "NG_007871.1:g.14529G>A",
        "LRG_190:g.14529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Val502Ile",
        "hgvsWellDefined": "ENSP00000219596.1:p.Val502Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1504G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1504G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Val502Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Val502Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Val502Ile",
        "hgvsWellDefined": "ENSP00000219596.1:p.Val502Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1004,
          "referenceAllele": "G",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.964G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:p.Val322Ile",
        "hgvsWellDefined": "ENSP00000339639.4:p.Val322Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:p.Val291Ile",
        "hgvsWellDefined": "ENSP00000445079.1:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:p.Val291Ile",
        "hgvsWellDefined": "ENSP00000444178.1:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:p.Val502Ile",
        "hgvsWellDefined": "ENSP00000438611.1:p.Val502Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1642,
          "referenceAllele": "G",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.*129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:n.*129G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:n.425G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539154.1:n.869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:p.Val291Ile",
        "hgvsWellDefined": "ENSP00000438711.1:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.1597G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:p.Val533Ile",
        "hgvsWellDefined": "ENSP00000444615.1:p.Val533Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.1058G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:n.1058G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "endIntronDirection": "-",
          "endIntronOffset": 551,
          "referenceAllele": "G",
          "start": 277,
          "startIntronDirection": "-",
          "startIntronOffset": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.278-552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:n.278-552G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:n.425G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:n.425G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:p.Val291Ile",
        "hgvsWellDefined": "ENSP00000481436.1:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658803468",
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.1504G>A",
        "LRG_190t1:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Val502Ile",
        "hgvsWellDefined": "NP_000234.1:p.Val502Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:p.Val291Ile",
        "hgvsWellDefined": "NP_001185465.1:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1683,
          "referenceAllele": "G",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.1501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Val501Ile",
        "hgvsWellDefined": "XP_016878725.1:p.Val501Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.1693G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658803468",
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Val502Ile",
        "hgvsWellDefined": "NP_000234.1:p.Val502Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1504G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1504G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Val502Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Val502Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826221759",
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:p.Val291Ile",
        "hgvsWellDefined": "NP_001185465.2:p.Val291Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}