{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4131739",
  "communityStandardTitle": [
    "NM_032415.7(CARD11):c.3370A>G (p.Met1124Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3107153[alleleid]",
        "alleleId": 3107153,
        "preferredName": "NM_032415.7(CARD11):c.3370A>G (p.Met1124Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2941622",
        "RCV": [
          "RCV003802644"
        ],
        "variationId": 2941622
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-2946367-T-C",
        "id": "7-2946367-T-C",
        "variant": "7:2946367 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2946367T>C?assembly=hg19",
        "id": "chr7:g.2946367T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.2906733T>C?assembly=hg38",
        "id": "chr7:g.2906733T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/576383569",
        "rs": 576383569
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2946367-T-C?dataset=gnomad_r2_1",
        "id": "7-2946367-T-C",
        "variant": "7:2946367 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2906733-T-C?dataset=gnomad_r3",
        "id": "7-2906733-T-C",
        "variant": "7:2906733 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-2906733-T-C?dataset=gnomad_r4",
        "id": "7-2906733-T-C",
        "variant": "7:2906733 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2906733,
          "referenceAllele": "T",
          "start": 2906732
        }
      ],
      "hgvs": [
        "NC_000007.14:g.2906733T>C",
        "CM000669.2:g.2906733T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2946367,
          "referenceAllele": "T",
          "start": 2946366
        }
      ],
      "hgvs": [
        "NC_000007.13:g.2946367T>C",
        "CM000669.1:g.2946367T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 2912893,
          "referenceAllele": "T",
          "start": 2912892
        }
      ],
      "hgvs": [
        "NC_000007.12:g.2912893T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142143,
          "referenceAllele": "A",
          "start": 142142
        }
      ],
      "hgvs": [
        "NG_027759.1:g.142143A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4480,
          "referenceAllele": "A",
          "start": 4479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698637.1:n.4480A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2326,
          "referenceAllele": "A",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000698652.1:n.2326A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "referenceAllele": "A",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.9:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Met1124Val",
        "hgvsWellDefined": "ENSP00000380150.4:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.3370A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.3370A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Met1124Val"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Met1124Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "referenceAllele": "A",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "ENST00000396946.8:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380150.4:p.Met1124Val",
        "hgvsWellDefined": "ENSP00000380150.4:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741993058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3774,
          "referenceAllele": "A",
          "start": 3773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.5:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Met1124Val",
        "hgvsWellDefined": "NP_115791.3:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3768,
          "referenceAllele": "A",
          "start": 3767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515585.1:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513887.1:p.Met1124Val",
        "hgvsWellDefined": "XP_011513887.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3772,
          "referenceAllele": "A",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.1:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Met1124Val",
        "hgvsWellDefined": "XP_011513888.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3766,
          "referenceAllele": "A",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.1:c.3367A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Met1123Val",
        "hgvsWellDefined": "XP_011513889.1:p.Met1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3835,
          "referenceAllele": "A",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.1:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Met1124Val",
        "hgvsWellDefined": "NP_001311210.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3803,
          "referenceAllele": "A",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515586.2:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513888.1:p.Met1124Val",
        "hgvsWellDefined": "XP_011513888.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3766,
          "referenceAllele": "A",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "XM_011515587.2:c.3367A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513889.1:p.Met1123Val",
        "hgvsWellDefined": "XP_011513889.1:p.Met1123Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3757,
          "referenceAllele": "A",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.2:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Met1124Val",
        "hgvsWellDefined": "NP_001311210.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741993058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "referenceAllele": "A",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.6:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Met1124Val",
        "hgvsWellDefined": "NP_115791.3:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827247334",
      "coordinates": [
        {
          "allele": "G",
          "end": 3757,
          "referenceAllele": "A",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_001324281.3:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311210.1:p.Met1124Val",
        "hgvsWellDefined": "NP_001311210.1:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741993058",
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "referenceAllele": "A",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016393",
      "geneNCBI_id": 84433,
      "geneSymbol": "CARD11",
      "hgvs": [
        "NM_032415.7:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115791.3:p.Met1124Val",
        "hgvsWellDefined": "NP_115791.3:p.Met1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396946.9:c.3370A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032415.7:c.3370A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380150.4:p.Met1124Val"
          },
          "RefSeq": {
            "hgvs": "NP_115791.3:p.Met1124Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}