{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394185445",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.2250+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=576355[alleleid]",
        "alleleId": 576355,
        "preferredName": "NM_001287.6(CLCN7):c.2250+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/585308",
        "RCV": [
          "RCV000710065"
        ],
        "variationId": 585308
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1497392C>A?assembly=hg19",
        "id": "chr16:g.1497392C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1447391C>A?assembly=hg38",
        "id": "chr16:g.1447391C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567263375",
        "rs": 1567263375
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1447391-C-A?dataset=gnomad_r4",
        "id": "16-1447391-C-A",
        "variant": "16:1447391 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1447391,
          "referenceAllele": "C",
          "start": 1447390
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1447391C>A",
        "CM000678.2:g.1447391C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1497392,
          "referenceAllele": "C",
          "start": 1497391
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1497392C>A",
        "CM000678.1:g.1497392C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1437393,
          "referenceAllele": "C",
          "start": 1437392
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1437393C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32694,
          "referenceAllele": "G",
          "start": 32693
        }
      ],
      "hgvs": [
        "NG_007567.1:g.32694G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2314,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.2250+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:n.2250+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2261,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.*563+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:n.*563+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.2250+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:n.2250+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.2250+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.2250+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:n.2250+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:n.2250+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "referenceAllele": "G",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.2179G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Ala727Ser",
        "hgvsWellDefined": "ENSP00000262318.8:p.Ala727Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2856,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2856,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.2250+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:n.2250+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2288,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.2178+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:n.2178+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2319,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000563642.6:n.2319+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1285,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000565092.6:n.1285+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000567836.2:n.491+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2288,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2288,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.2178+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:n.2178+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2360,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2360,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.2250+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:n.2250+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2442,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.2076+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:n.2076+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2304,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.2250+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:n.2250+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.2250+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.2250+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:n.2250+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:n.2250+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2232,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2232,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.2178+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:n.2178+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}