{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10765569",
  "communityStandardTitle": [
    "NM_030761.5(WNT4):c.589-306T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1250827[alleleid]",
        "alleleId": 1250827,
        "preferredName": "NM_030761.5(WNT4):c.589-306T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1263499",
        "RCV": [
          "RCV001672316"
        ],
        "variationId": 1263499
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22447316A>G?assembly=hg19",
        "id": "chr1:g.22447316A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22120823A>G?assembly=hg38",
        "id": "chr1:g.22120823A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3765350",
        "rs": 3765350
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22447316-A-G?dataset=gnomad_r2_1",
        "id": "1-22447316-A-G",
        "variant": "1:22447316 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22120823-A-G?dataset=gnomad_r3",
        "id": "1-22120823-A-G",
        "variant": "1:22120823 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22120823-A-G?dataset=gnomad_r4",
        "id": "1-22120823-A-G",
        "variant": "1:22120823 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 22120823,
          "referenceAllele": "A",
          "start": 22120822
        }
      ],
      "hgvs": [
        "NC_000001.11:g.22120823A>G",
        "CM000663.2:g.22120823A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 22447316,
          "referenceAllele": "A",
          "start": 22447315
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22447316A>G",
        "CM000663.1:g.22447316A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 22319903,
          "referenceAllele": "A",
          "start": 22319902
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22319903A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27204,
          "referenceAllele": "T",
          "start": 27203
        }
      ],
      "hgvs": [
        "NG_008974.1:g.27204T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001345"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 763,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "ENST00000290167.11:c.589-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290167.5:n.589-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290167.11:c.589-306T>C"
          },
          "RefSeq": {
            "hgvs": "NM_030761.5:c.589-306T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290167.5:n.589-306T>C"
          },
          "RefSeq": {
            "hgvs": "NP_110388.2:n.589-306T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 632,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 632,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "ENST00000290167.10:c.589-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290167.5:n.589-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 692,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "NM_030761.4:c.589-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_110388.2:n.589-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2006,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 2006,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "XM_011541597.1:c.655-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539899.1:n.655-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "XM_011541598.1:c.424-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539900.1:n.424-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 2166,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "XM_011541597.2:c.655-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539899.1:n.655-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "XM_011541598.2:c.424-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539900.1:n.424-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "endIntronDirection": "-",
          "endIntronOffset": 305,
          "referenceAllele": "T",
          "start": 763,
          "startIntronDirection": "-",
          "startIntronOffset": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012783",
      "geneNCBI_id": 54361,
      "geneSymbol": "WNT4",
      "hgvs": [
        "NM_030761.5:c.589-306T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_110388.2:n.589-306T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670997",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290167.11:c.589-306T>C"
          },
          "RefSeq": {
            "hgvs": "NM_030761.5:c.589-306T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290167.5:n.589-306T>C"
          },
          "RefSeq": {
            "hgvs": "NP_110388.2:n.589-306T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}