{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14961558",
  "communityStandardTitle": [
    "NM_058238.3(WNT7B):c.71+8825T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN17983794"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.46363739A>G?assembly=hg19",
        "id": "chr22:g.46363739A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.45967859A>G?assembly=hg38",
        "id": "chr22:g.45967859A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10453441",
        "rs": 10453441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-46363739-A-G?dataset=gnomad_r2_1",
        "id": "22-46363739-A-G",
        "variant": "22:46363739 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-45967859-A-G?dataset=gnomad_r3",
        "id": "22-45967859-A-G",
        "variant": "22:45967859 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-45967859-A-G?dataset=gnomad_r4",
        "id": "22-45967859-A-G",
        "variant": "22:45967859 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 45967859,
          "referenceAllele": "A",
          "start": 45967858
        }
      ],
      "hgvs": [
        "NC_000022.11:g.45967859A>G",
        "CM000684.2:g.45967859A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 46363739,
          "referenceAllele": "A",
          "start": 46363738
        }
      ],
      "hgvs": [
        "NC_000022.10:g.46363739A>G",
        "CM000684.1:g.46363739A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 44742403,
          "referenceAllele": "A",
          "start": 44742402
        }
      ],
      "hgvs": [
        "NC_000022.9:g.44742403A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 8825,
          "referenceAllele": "T",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 8824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000339464.9:c.71+8825T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341032.4:n.71+8825T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747820",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339464.9:c.71+8825T>C"
          },
          "RefSeq": {
            "hgvs": "NM_058238.3:c.71+8825T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341032.4:n.71+8825T>C"
          },
          "RefSeq": {
            "hgvs": "NP_478679.1:n.71+8825T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 8825,
          "referenceAllele": "T",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 8824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000339464.8:c.71+8825T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341032.4:n.71+8825T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 4296,
          "referenceAllele": "T",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000409496.7:c.83+4296T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386546.3:n.83+4296T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "endIntronDirection": "+",
          "endIntronOffset": 8825,
          "referenceAllele": "T",
          "start": 122,
          "startIntronDirection": "+",
          "startIntronOffset": 8824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000410058.1:c.71+8825T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387217.1:n.71+8825T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 7686,
          "referenceAllele": "T",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 7685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000410089.5:c.23+7686T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386781.1:n.23+7686T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "endIntronDirection": "+",
          "endIntronOffset": 7831,
          "referenceAllele": "T",
          "start": 220,
          "startIntronDirection": "+",
          "startIntronOffset": 7830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "ENST00000428540.1:c.-131+7831T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392750.1:n.-131+7831T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 8825,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 8824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "NM_058238.2:c.71+8825T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_478679.1:n.71+8825T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 4296,
          "referenceAllele": "T",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 4295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "XM_011530366.1:c.83+4296T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528668.1:n.83+4296T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 8825,
          "referenceAllele": "T",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 8824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012787",
      "geneNCBI_id": 7477,
      "geneSymbol": "WNT7B",
      "hgvs": [
        "NM_058238.3:c.71+8825T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_478679.1:n.71+8825T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671706",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339464.9:c.71+8825T>C"
          },
          "RefSeq": {
            "hgvs": "NM_058238.3:c.71+8825T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341032.4:n.71+8825T>C"
          },
          "RefSeq": {
            "hgvs": "NP_478679.1:n.71+8825T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}