{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384723932",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=623007[alleleid]",
        "alleleId": 623007,
        "preferredName": "NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/635179",
        "RCV": [
          "RCV000786035",
          "RCV001382674"
        ],
        "variationId": 635179
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49427441G>A?assembly=hg19",
        "id": "chr12:g.49427441G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49033658G>A?assembly=hg38",
        "id": "chr12:g.49033658G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1565779530",
        "rs": 1565779530
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49033658,
          "referenceAllele": "G",
          "start": 49033657
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49033658G>A",
        "CM000674.2:g.49033658G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49427441,
          "referenceAllele": "G",
          "start": 49427440
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49427441G>A",
        "CM000674.1:g.49427441G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47713708,
          "referenceAllele": "G",
          "start": 47713707
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47713708G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26667,
          "referenceAllele": "C",
          "start": 26666
        }
      ],
      "hgvs": [
        "NG_027827.1:g.26667C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12266,
          "referenceAllele": "C",
          "start": 12265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11056,
          "referenceAllele": "C",
          "start": 11055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685554.1:c.607C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508640.1:p.Gln203Ter",
        "hgvsWellDefined": "ENSP00000508640.1:p.Gln203_Glu630del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "C",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000687201.1:c.2626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510037.1:p.Gln876Ter",
        "hgvsWellDefined": "ENSP00000510037.1:p.Gln876_Glu1257del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11044,
          "referenceAllele": "C",
          "start": 11043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.11044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Gln3682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2526,
          "referenceAllele": "C",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692841.1:c.2526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508711.1:n.2526C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12266,
          "referenceAllele": "C",
          "start": 12265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.11047C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.11047C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gln3683Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gln3683Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11047,
          "referenceAllele": "C",
          "start": 11046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11047,
          "referenceAllele": "C",
          "start": 11046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12341,
          "referenceAllele": "C",
          "start": 12340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12350,
          "referenceAllele": "C",
          "start": 12349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12337,
          "referenceAllele": "C",
          "start": 12336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.11044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gln3682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12357,
          "referenceAllele": "C",
          "start": 12356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12354,
          "referenceAllele": "C",
          "start": 12353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.11053C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gln3685Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12347,
          "referenceAllele": "C",
          "start": 12346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12344,
          "referenceAllele": "C",
          "start": 12343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.11044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gln3682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12337,
          "referenceAllele": "C",
          "start": 12336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.11035C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gln3679Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12360,
          "referenceAllele": "C",
          "start": 12359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12264,
          "referenceAllele": "C",
          "start": 12263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.10963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gln3655Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13376,
          "referenceAllele": "C",
          "start": 13375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.13376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12326,
          "referenceAllele": "C",
          "start": 12325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12336,
          "referenceAllele": "C",
          "start": 12335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12323,
          "referenceAllele": "C",
          "start": 12322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.11044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gln3682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12338,
          "referenceAllele": "C",
          "start": 12337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.11056C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gln3686Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12335,
          "referenceAllele": "C",
          "start": 12334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.11053C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gln3685Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12329,
          "referenceAllele": "C",
          "start": 12328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12326,
          "referenceAllele": "C",
          "start": 12325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.11044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gln3682Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12318,
          "referenceAllele": "C",
          "start": 12317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.11035C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gln3679Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12245,
          "referenceAllele": "C",
          "start": 12244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.10963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gln3655Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12365,
          "referenceAllele": "C",
          "start": 12364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.12365C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12266,
          "referenceAllele": "C",
          "start": 12265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.11047C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gln3683Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.11047C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.11047C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gln3683Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gln3683Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}