{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366643650",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.1940+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1446765[alleleid]",
        "alleleId": 1446765,
        "preferredName": "NM_032415.7(CARD11):c.1940+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1521112",
        "RCV": [
          "RCV002046236"
        ],
        "variationId": 1521112
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2963866C>A?assembly=hg19",
        "id": "chr7:g.2963866C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2924232C>A?assembly=hg38",
        "id": "chr7:g.2924232C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2115046344",
        "rs": 2115046344
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2924232,
          "referenceAllele": "C",
          "start": 2924231
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2924232C>A",
        "CM000669.2:g.2924232C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2963866,
          "referenceAllele": "C",
          "start": 2963865
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2963866C>A",
        "CM000669.1:g.2963866C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 2930392,
          "referenceAllele": "C",
          "start": 2930391
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2930392C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124644,
          "referenceAllele": "G",
          "start": 124643
        }
      ],
      "hgvs": [
        "NG_027759.1:g.124644G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.2266+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1940+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1940+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:n.1940+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:n.1940+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 353,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000355508.3:c.353+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347695.3:n.353+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2344,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2344,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2338,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2342,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2342,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.1937+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:n.1937+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2405,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2405,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2373,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.1937+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:n.1937+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.2339+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2327,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2327,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2266,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2266,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.1940+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:n.1940+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1940+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1940+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:n.1940+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:n.1940+1G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}