{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394187881",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.1448-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1859410[alleleid]",
        "alleleId": 1859410,
        "preferredName": "NM_001287.6(CLCN7):c.1448-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1802224",
        "RCV": [
          "RCV002465037"
        ],
        "variationId": 1802224
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1500669T>C?assembly=hg19",
        "id": "chr16:g.1500669T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1450668T>C?assembly=hg38",
        "id": "chr16:g.1450668T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2505819682",
        "rs": 2505819682
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1450668-T-C?dataset=gnomad_r4",
        "id": "16-1450668-T-C",
        "variant": "16:1450668 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1450668,
          "referenceAllele": "T",
          "start": 1450667
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1450668T>C",
        "CM000678.2:g.1450668T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1500669,
          "referenceAllele": "T",
          "start": 1500668
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1500669T>C",
        "CM000678.1:g.1500669T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1440670,
          "referenceAllele": "T",
          "start": 1440669
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1440670T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29417,
          "referenceAllele": "A",
          "start": 29416
        }
      ],
      "hgvs": [
        "NG_007567.1:g.29417A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1511,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1511,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.1448-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:n.1448-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.1454-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:n.1454-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1501,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.1448-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:n.1448-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1448-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1448-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:n.1448-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:n.1448-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1458,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1458,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.1376-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:n.1376-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2053,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2053,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.1448-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:n.1448-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.1376-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:n.1376-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 347,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000563642.6:n.348-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.1376-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:n.1376-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1557,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1557,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.1448-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:n.1448-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1639,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1639,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.1274-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:n.1274-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1501,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1501,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.1448-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:n.1448-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1448-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1448-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:n.1448-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:n.1448-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1429,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1429,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.1376-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:n.1376-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}