{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14781025",
  "communityStandardTitle": [
    "NM_001794.5(CDH4):c.169+23945A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.59853938A>G?assembly=hg19",
        "id": "chr20:g.59853938A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.61278882A>G?assembly=hg38",
        "id": "chr20:g.61278882A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1970546",
        "rs": 1970546
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-59853938-A-G?dataset=gnomad_r2_1",
        "id": "20-59853938-A-G",
        "variant": "20:59853938 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-61278882-A-G?dataset=gnomad_r3",
        "id": "20-61278882-A-G",
        "variant": "20:61278882 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-61278882-A-G?dataset=gnomad_r4",
        "id": "20-61278882-A-G",
        "variant": "20:61278882 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 61278882,
          "referenceAllele": "A",
          "start": 61278881
        }
      ],
      "hgvs": [
        "NC_000020.11:g.61278882A>G",
        "CM000682.2:g.61278882A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 59853938,
          "referenceAllele": "A",
          "start": 59853937
        }
      ],
      "hgvs": [
        "NC_000020.10:g.59853938A>G",
        "CM000682.1:g.59853938A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 59287333,
          "referenceAllele": "A",
          "start": 59287332
        }
      ],
      "hgvs": [
        "NC_000020.9:g.59287333A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 23945,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 23944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001763",
      "geneNCBI_id": 1002,
      "geneSymbol": "CDH4",
      "hgvs": [
        "ENST00000614565.5:c.169+23945A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484928.1:n.169+23945A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614565.5:c.169+23945A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001794.5:c.169+23945A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484928.1:n.169+23945A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001785.2:n.169+23945A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "endIntronDirection": "+",
          "endIntronOffset": 23945,
          "referenceAllele": "A",
          "start": 257,
          "startIntronDirection": "+",
          "startIntronOffset": 23944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001763",
      "geneNCBI_id": 1002,
      "geneSymbol": "CDH4",
      "hgvs": [
        "ENST00000614565.4:c.169+23945A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484928.1:n.169+23945A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "endIntronDirection": "+",
          "endIntronOffset": 23945,
          "referenceAllele": "A",
          "start": 257,
          "startIntronDirection": "+",
          "startIntronOffset": 23944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001763",
      "geneNCBI_id": 1002,
      "geneSymbol": "CDH4",
      "hgvs": [
        "NM_001794.4:c.169+23945A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001785.2:n.169+23945A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 23945,
          "referenceAllele": "A",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 23944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001763",
      "geneNCBI_id": 1002,
      "geneSymbol": "CDH4",
      "hgvs": [
        "NM_001794.5:c.169+23945A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001785.2:n.169+23945A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614565.5:c.169+23945A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001794.5:c.169+23945A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000484928.1:n.169+23945A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001785.2:n.169+23945A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}