{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8991538",
  "communityStandardTitle": [
    "NM_004361.5(CDH7):c.1904A>G (p.Lys635Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2258820[alleleid]",
        "alleleId": 2258820,
        "preferredName": "NM_004361.5(CDH7):c.1904A>G (p.Lys635Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2262500",
        "RCV": [
          "RCV004118040"
        ],
        "variationId": 2262500
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-63547676-A-G",
        "id": "18-63547676-A-G",
        "variant": "18:63547676 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.63547676A>G?assembly=hg19",
        "id": "chr18:g.63547676A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.65880440A>G?assembly=hg38",
        "id": "chr18:g.65880440A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766349874",
        "rs": 766349874
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-63547676-A-G?dataset=gnomad_r2_1",
        "id": "18-63547676-A-G",
        "variant": "18:63547676 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-65880440-A-G?dataset=gnomad_r3",
        "id": "18-65880440-A-G",
        "variant": "18:65880440 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-65880440-A-G?dataset=gnomad_r4",
        "id": "18-65880440-A-G",
        "variant": "18:65880440 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 65880440,
          "referenceAllele": "A",
          "start": 65880439
        }
      ],
      "hgvs": [
        "NC_000018.10:g.65880440A>G",
        "CM000680.2:g.65880440A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 63547676,
          "referenceAllele": "A",
          "start": 63547675
        }
      ],
      "hgvs": [
        "NC_000018.9:g.63547676A>G",
        "CM000680.1:g.63547676A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 61698656,
          "referenceAllele": "A",
          "start": 61698655
        }
      ],
      "hgvs": [
        "NC_000018.8:g.61698656A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "ENST00000397968.4:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381058.2:p.Lys635Arg",
        "hgvsWellDefined": "ENSP00000381058.2:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397968.4:c.1904A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004361.5:c.1904A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381058.2:p.Lys635Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004352.2:p.Lys635Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "ENST00000323011.7:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319166.3:p.Lys635Arg",
        "hgvsWellDefined": "ENSP00000319166.3:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "referenceAllele": "A",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "ENST00000397968.3:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381058.2:p.Lys635Arg",
        "hgvsWellDefined": "ENSP00000381058.2:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527995",
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "referenceAllele": "A",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_004361.2:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004352.2:p.Lys635Arg",
        "hgvsWellDefined": "NP_004352.2:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580491740",
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_033646.1:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_387450.1:p.Lys635Arg",
        "hgvsWellDefined": "NP_387450.1:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061467",
      "coordinates": [
        {
          "allele": "G",
          "end": 3474,
          "referenceAllele": "A",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_001362438.1:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349367.1:p.Lys635Arg",
        "hgvsWellDefined": "NP_001349367.1:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527995",
      "coordinates": [
        {
          "allele": "G",
          "end": 2672,
          "referenceAllele": "A",
          "start": 2671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_004361.4:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004352.2:p.Lys635Arg",
        "hgvsWellDefined": "NP_004352.2:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580491740",
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_033646.3:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_387450.1:p.Lys635Arg",
        "hgvsWellDefined": "NP_387450.1:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829527995",
      "coordinates": [
        {
          "allele": "G",
          "end": 2239,
          "referenceAllele": "A",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_004361.5:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004352.2:p.Lys635Arg",
        "hgvsWellDefined": "NP_004352.2:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397968.4:c.1904A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004361.5:c.1904A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381058.2:p.Lys635Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004352.2:p.Lys635Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828061467",
      "coordinates": [
        {
          "allele": "G",
          "end": 3041,
          "referenceAllele": "A",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_001362438.2:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349367.1:p.Lys635Arg",
        "hgvsWellDefined": "NP_001349367.1:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580491740",
      "coordinates": [
        {
          "allele": "G",
          "end": 2229,
          "referenceAllele": "A",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001766",
      "geneNCBI_id": 1005,
      "geneSymbol": "CDH7",
      "hgvs": [
        "NM_033646.4:c.1904A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_387450.1:p.Lys635Arg",
        "hgvsWellDefined": "NP_387450.1:p.Lys635Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728970"
    }
  ],
  "type": "nucleotide"
}