{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7859930",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791598[alleleid]",
        "alleleId": 791598,
        "preferredName": "NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803185",
        "RCV": [
          "RCV000989480",
          "RCV003127572",
          "RCV003127571"
        ],
        "variationId": 803185
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-3293879-A-C",
        "id": "16-3293879-A-C",
        "variant": "16:3293879 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3293879A>C?assembly=hg19",
        "id": "chr16:g.3293879A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3243879A>C?assembly=hg38",
        "id": "chr16:g.3243879A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141706767",
        "rs": 141706767
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3293879-A-C?dataset=gnomad_r2_1",
        "id": "16-3293879-A-C",
        "variant": "16:3293879 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3243879-A-C?dataset=gnomad_r3",
        "id": "16-3243879-A-C",
        "variant": "16:3243879 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3243879-A-C?dataset=gnomad_r4",
        "id": "16-3243879-A-C",
        "variant": "16:3243879 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3243879,
          "referenceAllele": "A",
          "start": 3243878
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3243879A>C",
        "CM000678.2:g.3243879A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3293879,
          "referenceAllele": "A",
          "start": 3293878
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3293879A>C",
        "CM000678.1:g.3293879A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3233880,
          "referenceAllele": "A",
          "start": 3233879
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3233880A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17749,
          "referenceAllele": "T",
          "start": 17748
        }
      ],
      "hgvs": [
        "NG_007871.1:g.17749T>G",
        "LRG_190:g.17749T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 894,
          "referenceAllele": "T",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000697124.1:n.894T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1819,
          "referenceAllele": "T",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.1773T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Ile591Met",
        "hgvsWellDefined": "ENSP00000219596.1:p.Ile591Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1773T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1773T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Ile591Met"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Ile591Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1813,
          "referenceAllele": "T",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.1773T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Ile591Met",
        "hgvsWellDefined": "ENSP00000219596.1:p.Ile591Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1273,
          "referenceAllele": "T",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.1233T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:p.Ile411Met",
        "hgvsWellDefined": "ENSP00000339639.4:p.Ile411Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.1140T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:p.Ile380Met",
        "hgvsWellDefined": "ENSP00000445079.1:p.Ile380Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1298,
          "referenceAllele": "T",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.*49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:n.*49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "referenceAllele": "T",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.*49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:n.*49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1911,
          "referenceAllele": "T",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.*398T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:n.*398T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.694T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:n.694T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "T",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.1315T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:p.Trp439Gly",
        "hgvsWellDefined": "ENSP00000438711.1:p.Trp439Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "T",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.*49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:n.*49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.1178T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:n.1178T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.463T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:n.463T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.545T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:n.545T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 578,
          "referenceAllele": "T",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.578T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:n.578T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1310,
          "referenceAllele": "T",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.1310T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:n.1310T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099912",
      "coordinates": [
        {
          "allele": "G",
          "end": 1813,
          "referenceAllele": "T",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.1773T>G",
        "LRG_190t1:c.1773T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Ile591Met",
        "hgvsWellDefined": "NP_000234.1:p.Ile591Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002381",
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "referenceAllele": "T",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.1315T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:p.Trp439Gly",
        "hgvsWellDefined": "NP_001185465.1:p.Trp439Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1952,
          "referenceAllele": "T",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.1770T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Ile590Met",
        "hgvsWellDefined": "XP_016878725.1:p.Ile590Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2080,
          "referenceAllele": "T",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.2080T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825099912",
      "coordinates": [
        {
          "allele": "G",
          "end": 1819,
          "referenceAllele": "T",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.1773T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Ile591Met",
        "hgvsWellDefined": "NP_000234.1:p.Ile591Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1773T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1773T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Ile591Met"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Ile591Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687266",
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "T",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.1315T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:p.Trp439Gly",
        "hgvsWellDefined": "NP_001185465.2:p.Trp439Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}