{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366646147",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.864+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3108190[alleleid]",
        "alleleId": 3108190,
        "preferredName": "NM_032415.7(CARD11):c.864+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2946530",
        "RCV": [
          "RCV003808768"
        ],
        "variationId": 2946530
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2979382C>G?assembly=hg19",
        "id": "chr7:g.2979382C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2939748C>G?assembly=hg38",
        "id": "chr7:g.2939748C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1780191273",
        "rs": 1780191273
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 2939748,
          "referenceAllele": "C",
          "start": 2939747
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2939748C>G",
        "CM000669.2:g.2939748C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 2979382,
          "referenceAllele": "C",
          "start": 2979381
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2979382C>G",
        "CM000669.1:g.2979382C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 2945908,
          "referenceAllele": "C",
          "start": 2945907
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2945908C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109128,
          "referenceAllele": "G",
          "start": 109127
        }
      ],
      "hgvs": [
        "NG_027759.1:g.109128G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.1190+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698654.1:n.1123+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1064,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698662.1:n.1064+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.864+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.864+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:n.864+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:n.864+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1268,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1268,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1262,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1329,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1297,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1263,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.1263+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1251,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.864+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.864+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.864+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.864+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:n.864+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:n.864+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}