{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394484780",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.97G>C (p.Val33Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3306491C>G?assembly=hg19",
        "id": "chr16:g.3306491C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3256491C>G?assembly=hg38",
        "id": "chr16:g.3256491C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3256491,
          "referenceAllele": "C",
          "start": 3256490
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3256491C>G",
        "CM000678.2:g.3256491C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3306491,
          "referenceAllele": "C",
          "start": 3306490
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3306491C>G",
        "CM000678.1:g.3306491C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 3246492,
          "referenceAllele": "C",
          "start": 3246491
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3246492C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5137,
          "referenceAllele": "G",
          "start": 5136
        }
      ],
      "hgvs": [
        "NG_007871.1:g.5137G>C",
        "LRG_190:g.5137G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000219596.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.97G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.97G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Val33Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Val33Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000219596.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000339639.4:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000445079.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000444178.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000438611.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000437486.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000444471.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000438711.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000444615.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000458312.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000461186.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000460269.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000460551.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97,
          "referenceAllele": "G",
          "start": 96
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:p.Val33Leu",
        "hgvsWellDefined": "ENSP00000481436.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280291",
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.97G>C",
        "LRG_190t1:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Val33Leu",
        "hgvsWellDefined": "NP_000234.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002328",
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:p.Val33Leu",
        "hgvsWellDefined": "NP_001185465.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Val33Leu",
        "hgvsWellDefined": "XP_016878725.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.286G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280291",
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Val33Leu",
        "hgvsWellDefined": "NP_000234.1:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.97G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.97G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Val33Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Val33Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573067309",
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:p.Val33Leu",
        "hgvsWellDefined": "NP_001185465.2:p.Val33Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}