{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA203896",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=41654",
        "active": true,
        "id": "COSM41654"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199872[alleleid]",
        "alleleId": 199872,
        "preferredName": "NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203461",
        "RCV": [
          "RCV000185616",
          "RCV001390618"
        ],
        "variationId": 203461
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2987283C>T?assembly=hg19",
        "id": "chr7:g.2987283C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2947649C>T?assembly=hg38",
        "id": "chr7:g.2947649C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794729673",
        "rs": 794729673
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2987283-C-T?dataset=gnomad_r2_1",
        "id": "7-2987283-C-T",
        "variant": "7:2987283 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2947649-C-T?dataset=gnomad_r4",
        "id": "7-2947649-C-T",
        "variant": "7:2947649 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2947649,
          "referenceAllele": "C",
          "start": 2947648
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2947649C>T",
        "CM000669.2:g.2947649C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2987283,
          "referenceAllele": "C",
          "start": 2987282
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2987283C>T",
        "CM000669.1:g.2987283C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 2953809,
          "referenceAllele": "C",
          "start": 2953808
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2953809C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101227,
          "referenceAllele": "G",
          "start": 101226
        }
      ],
      "hgvs": [
        "NG_027759.1:g.101227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.472G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 371,
          "referenceAllele": "G",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698654.1:n.371G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698662.1:n.346G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Cys49Tyr",
        "hgvsWellDefined": "ENSP00000380150.4:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.146G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.146G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Cys49Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Cys49Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000356408.3:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348779.3:p.Cys49Tyr",
        "hgvsWellDefined": "ENSP00000348779.3:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Cys49Tyr",
        "hgvsWellDefined": "ENSP00000380150.4:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA203897",
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Cys49Tyr",
        "hgvsWellDefined": "NP_115791.3:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Cys49Tyr",
        "hgvsWellDefined": "XP_011513887.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Cys49Tyr",
        "hgvsWellDefined": "XP_011513888.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Cys49Tyr",
        "hgvsWellDefined": "XP_011513889.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246663",
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Cys49Tyr",
        "hgvsWellDefined": "NP_001311210.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Cys49Tyr",
        "hgvsWellDefined": "XP_011513888.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Cys49Tyr",
        "hgvsWellDefined": "XP_011513889.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XR_001744885.1:n.545G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246663",
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Cys49Tyr",
        "hgvsWellDefined": "NP_001311210.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA203897",
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Cys49Tyr",
        "hgvsWellDefined": "NP_115791.3:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827246663",
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Cys49Tyr",
        "hgvsWellDefined": "NP_001311210.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA203897",
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Cys49Tyr",
        "hgvsWellDefined": "NP_115791.3:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.146G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.146G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Cys49Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Cys49Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}