{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344953",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3754667"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76542[alleleid]",
        "alleleId": 76542,
        "preferredName": "NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65634",
        "RCV": [
          "RCV000055845",
          "RCV000251178",
          "RCV000338192",
          "RCV001516365",
          "RCV002277138"
        ],
        "variationId": 65634
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-1502857-C-T",
        "id": "16-1502857-C-T",
        "variant": "16:1502857 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1502857C>T?assembly=hg19",
        "id": "chr16:g.1502857C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1452856C>T?assembly=hg38",
        "id": "chr16:g.1452856C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12926089",
        "rs": 12926089
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1502857-C-T?dataset=gnomad_r2_1",
        "id": "16-1502857-C-T",
        "variant": "16:1502857 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1452856-C-T?dataset=gnomad_r3",
        "id": "16-1452856-C-T",
        "variant": "16:1452856 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1452856-C-T?dataset=gnomad_r4",
        "id": "16-1452856-C-T",
        "variant": "16:1452856 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1452856,
          "referenceAllele": "C",
          "start": 1452855
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1452856C>T",
        "CM000678.2:g.1452856C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1502857,
          "referenceAllele": "C",
          "start": 1502856
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1502857C>T",
        "CM000678.1:g.1502857C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1442858,
          "referenceAllele": "C",
          "start": 1442857
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1442858C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27229,
          "referenceAllele": "G",
          "start": 27228
        }
      ],
      "hgvs": [
        "NG_007567.1:g.27229G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Val418Met",
        "hgvsWellDefined": "ENSP00000514703.1:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:p.Val418Met",
        "hgvsWellDefined": "ENSP00000514704.1:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Val418Met",
        "hgvsWellDefined": "ENSP00000372193.4:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1252G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1252G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Val418Met"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Val418Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Val394Met",
        "hgvsWellDefined": "ENSP00000262318.8:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Val418Met",
        "hgvsWellDefined": "ENSP00000372193.4:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Val394Met",
        "hgvsWellDefined": "ENSP00000410907.1:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Val394Met",
        "hgvsWellDefined": "NP_001107803.1:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344954",
      "coordinates": [
        {
          "allele": "A",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Val418Met",
        "hgvsWellDefined": "NP_001278.1:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.1078G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Val360Met",
        "hgvsWellDefined": "XP_011520656.1:p.Val360Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA344954",
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.1252G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Val418Met",
        "hgvsWellDefined": "NP_001278.1:p.Val418Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1252G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1252G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Val418Met"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Val418Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.1180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Val394Met",
        "hgvsWellDefined": "NP_001107803.1:p.Val394Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}