{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA366644131",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.1740C>A (p.Asp580Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1007431[alleleid]",
        "alleleId": 1007431,
        "preferredName": "NM_032415.7(CARD11):c.1740C>A (p.Asp580Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1017453",
        "RCV": [
          "RCV001316609"
        ],
        "variationId": 1017453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2968246G>T?assembly=hg19",
        "id": "chr7:g.2968246G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2928612G>T?assembly=hg38",
        "id": "chr7:g.2928612G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775014401",
        "rs": 775014401
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2968246-G-T?dataset=gnomad_r2_1",
        "id": "7-2968246-G-T",
        "variant": "7:2968246 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2928612-G-T?dataset=gnomad_r3",
        "id": "7-2928612-G-T",
        "variant": "7:2928612 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2928612-G-T?dataset=gnomad_r4",
        "id": "7-2928612-G-T",
        "variant": "7:2928612 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2928612,
          "referenceAllele": "G",
          "start": 2928611
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2928612G>T",
        "CM000669.2:g.2928612G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2968246,
          "referenceAllele": "G",
          "start": 2968245
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2968246G>T",
        "CM000669.1:g.2968246G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2934772,
          "referenceAllele": "G",
          "start": 2934771
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2934772G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 120264,
          "referenceAllele": "C",
          "start": 120263
        }
      ],
      "hgvs": [
        "NG_027759.1:g.120264C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.2066C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Asp580Glu",
        "hgvsWellDefined": "ENSP00000380150.4:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1740C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1740C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Asp580Glu"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Asp580Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000355508.3:c.153C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347695.3:p.Asp51Glu",
        "hgvsWellDefined": "ENSP00000347695.3:p.Asp51Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Asp580Glu",
        "hgvsWellDefined": "ENSP00000380150.4:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293278",
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp580Glu",
        "hgvsWellDefined": "NP_115791.3:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Asp580Glu",
        "hgvsWellDefined": "XP_011513887.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Asp580Glu",
        "hgvsWellDefined": "XP_011513888.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.1737C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Asp579Glu",
        "hgvsWellDefined": "XP_011513889.1:p.Asp579Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246962",
      "coordinates": [
        {
          "allele": "A",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp580Glu",
        "hgvsWellDefined": "NP_001311210.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2173,
          "referenceAllele": "C",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Asp580Glu",
        "hgvsWellDefined": "XP_011513888.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.1737C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Asp579Glu",
        "hgvsWellDefined": "XP_011513889.1:p.Asp579Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.2139C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246962",
      "coordinates": [
        {
          "allele": "A",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp580Glu",
        "hgvsWellDefined": "NP_001311210.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293278",
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp580Glu",
        "hgvsWellDefined": "NP_115791.3:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246962",
      "coordinates": [
        {
          "allele": "A",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Asp580Glu",
        "hgvsWellDefined": "NP_001311210.1:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293278",
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Asp580Glu",
        "hgvsWellDefined": "NP_115791.3:p.Asp580Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.1740C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.1740C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Asp580Glu"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Asp580Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}