{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276896123",
  "communityStandardTitle": [
    "NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1356877[alleleid]",
        "alleleId": 1356877,
        "preferredName": "NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1467370",
        "RCV": [
          "RCV001990757",
          "RCV002507721",
          "RCV003126049",
          "RCV003126050"
        ],
        "variationId": 1467370
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3294514T>C?assembly=hg19",
        "id": "chr16:g.3294514T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.3244514T>C?assembly=hg38",
        "id": "chr16:g.3244514T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1033941048",
        "rs": 1033941048
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-3244514-T-C?dataset=gnomad_r4",
        "id": "16-3244514-T-C",
        "variant": "16:3244514 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3244514,
          "referenceAllele": "T",
          "start": 3244513
        }
      ],
      "hgvs": [
        "NC_000016.10:g.3244514T>C",
        "CM000678.2:g.3244514T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3294514,
          "referenceAllele": "T",
          "start": 3294513
        }
      ],
      "hgvs": [
        "NC_000016.9:g.3294514T>C",
        "CM000678.1:g.3294514T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 3234515,
          "referenceAllele": "T",
          "start": 3234514
        }
      ],
      "hgvs": [
        "NC_000016.8:g.3234515T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17114,
          "referenceAllele": "A",
          "start": 17113
        }
      ],
      "hgvs": [
        "NG_007871.1:g.17114A>G",
        "LRG_190:g.17114A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000680"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000697124.1:n.806A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.6:c.1685A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Gln562Arg",
        "hgvsWellDefined": "ENSP00000219596.1:p.Gln562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1685A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1685A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Gln562Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Gln562Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "A",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000219596.5:c.1685A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219596.1:p.Gln562Arg",
        "hgvsWellDefined": "ENSP00000219596.1:p.Gln562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000339854.8:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339639.4:p.Gln382Arg",
        "hgvsWellDefined": "ENSP00000339639.4:p.Gln382Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536379.5:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445079.1:p.Gln351Arg",
        "hgvsWellDefined": "ENSP00000445079.1:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000536980.5:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444178.1:p.Gln351Arg",
        "hgvsWellDefined": "ENSP00000444178.1:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "A",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000537682.5:c.1685A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438611.1:p.Gln562Arg",
        "hgvsWellDefined": "ENSP00000438611.1:p.Gln562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1823,
          "referenceAllele": "A",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000538326.5:c.*310A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437486.1:n.*310A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "referenceAllele": "A",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000539145.5:c.606A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444471.1:n.606A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000541159.5:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438711.1:p.Gln351Arg",
        "hgvsWellDefined": "ENSP00000438711.1:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1818,
          "referenceAllele": "A",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000542898.5:c.1778A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444615.1:p.Gln593Arg",
        "hgvsWellDefined": "ENSP00000444615.1:p.Gln593Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "endIntronDirection": "-",
          "endIntronOffset": 621,
          "referenceAllele": "A",
          "start": 1164,
          "startIntronDirection": "-",
          "startIntronOffset": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000570511.5:c.1165-622A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458312.1:n.1165-622A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000572244.5:c.375A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461186.1:n.375A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 621,
          "referenceAllele": "A",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000574583.5:c.532-622A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460269.1:n.532-622A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 227,
          "referenceAllele": "A",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000576315.5:c.532-228A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460551.1:n.532-228A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "A",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "ENST00000621655.1:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481436.1:p.Gln351Arg",
        "hgvsWellDefined": "ENSP00000481436.1:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405372"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "A",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.2:c.1685A>G",
        "LRG_190t1:c.1685A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Gln562Arg",
        "hgvsWellDefined": "NP_000234.1:p.Gln562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "A",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.1:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.1:p.Gln351Arg",
        "hgvsWellDefined": "NP_001185465.1:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1864,
          "referenceAllele": "A",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XM_017023236.2:c.1682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878725.1:p.Gln561Arg",
        "hgvsWellDefined": "XP_016878725.1:p.Gln561Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1874,
          "referenceAllele": "A",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "XR_001751903.1:n.1874A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164903",
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_000243.3:c.1685A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000234.1:p.Gln562Arg",
        "hgvsWellDefined": "NP_000234.1:p.Gln562Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219596.6:c.1685A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000243.3:c.1685A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219596.1:p.Gln562Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000234.1:p.Gln562Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826221840",
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "referenceAllele": "A",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006998",
      "geneNCBI_id": 4210,
      "geneSymbol": "MEFV",
      "hgvs": [
        "NM_001198536.2:c.1052A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185465.2:p.Gln351Arg",
        "hgvsWellDefined": "NP_001185465.2:p.Gln351Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679391"
    }
  ],
  "type": "nucleotide"
}