{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280673",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.866C>T (p.Ala289Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103442[alleleid]",
        "alleleId": 103442,
        "preferredName": "NM_000243.3(MEFV):c.866C>T (p.Ala289Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97550",
        "RCV": [
          "RCV000083802",
          "RCV000594000",
          "RCV002262656",
          "RCV003114248",
          "RCV003126494",
          "RCV003126493",
          "RCV002483165"
        ],
        "variationId": 97550
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3304202-G-A",
        "id": "16-3304202-G-A",
        "variant": "16:3304202 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3304202G>A?assembly=hg19",
        "id": "chr16:g.3304202G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3254202G>A?assembly=hg38",
        "id": "chr16:g.3254202G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895132",
        "rs": 104895132
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3304202-G-A?dataset=gnomad_r2_1",
        "id": "16-3304202-G-A",
        "variant": "16:3304202 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3254202-G-A?dataset=gnomad_r3",
        "id": "16-3254202-G-A",
        "variant": "16:3254202 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3254202-G-A?dataset=gnomad_r4",
        "id": "16-3254202-G-A",
        "variant": "16:3254202 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3254202,
          "referenceAllele": "G",
          "start": 3254201
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3254202G>A",
        "CM000678.2:g.3254202G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3304202,
          "referenceAllele": "G",
          "start": 3304201
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3304202G>A",
        "CM000678.1:g.3304202G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 3244203,
          "referenceAllele": "G",
          "start": 3244202
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3244203G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7426,
          "referenceAllele": "C",
          "start": 7425
        }
      ],
      "hgvs": [
        "NG_007871.1:g.7426C>T",
        "LRG_190:g.7426C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000219596.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.866C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.866C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Ala289Val"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Ala289Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000219596.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000438611.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000437486.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000444615.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:p.Ala289Val",
        "hgvsWellDefined": "ENSP00000458312.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280675",
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.866C>T",
        "LRG_190t1:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Ala289Val",
        "hgvsWellDefined": "NP_000234.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Ala289Val",
        "hgvsWellDefined": "XP_016878725.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.1055C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280675",
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.866C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Ala289Val",
        "hgvsWellDefined": "NP_000234.1:p.Ala289Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.866C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.866C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Ala289Val"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Ala289Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.277+2109C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:n.277+2109C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}