{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA275138",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193121[alleleid]",
        "alleleId": 193121,
        "preferredName": "NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195960",
        "RCV": [
          "RCV000176652",
          "RCV001201615"
        ],
        "variationId": 195960
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49436629G>A?assembly=hg19",
        "id": "chr12:g.49436629G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49042846G>A?assembly=hg38",
        "id": "chr12:g.49042846G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727420",
        "rs": 794727420
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49042846-G-A?dataset=gnomad_r4",
        "id": "12-49042846-G-A",
        "variant": "12:49042846 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49042846,
          "referenceAllele": "G",
          "start": 49042845
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49042846G>A",
        "CM000674.2:g.49042846G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49436629,
          "referenceAllele": "G",
          "start": 49436628
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49436629G>A",
        "CM000674.1:g.49436629G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47722896,
          "referenceAllele": "G",
          "start": 47722895
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47722896G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17479,
          "referenceAllele": "C",
          "start": 17478
        }
      ],
      "hgvs": [
        "NG_027827.1:g.17479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000650290.2:c.489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6896,
          "referenceAllele": "C",
          "start": 6895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5686,
          "referenceAllele": "C",
          "start": 5685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000688095.1:c.1626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510007.1:n.1626C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5674,
          "referenceAllele": "C",
          "start": 5673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6896,
          "referenceAllele": "C",
          "start": 6895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.5677C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.5677C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gln1893Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gln1893Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5677,
          "referenceAllele": "C",
          "start": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5677,
          "referenceAllele": "C",
          "start": 5676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6971,
          "referenceAllele": "C",
          "start": 6970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6980,
          "referenceAllele": "C",
          "start": 6979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6967,
          "referenceAllele": "C",
          "start": 6966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6987,
          "referenceAllele": "C",
          "start": 6986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6984,
          "referenceAllele": "C",
          "start": 6983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.5683C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gln1895Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6977,
          "referenceAllele": "C",
          "start": 6976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6974,
          "referenceAllele": "C",
          "start": 6973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6988,
          "referenceAllele": "C",
          "start": 6987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6990,
          "referenceAllele": "C",
          "start": 6989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6987,
          "referenceAllele": "C",
          "start": 6986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8006,
          "referenceAllele": "C",
          "start": 8005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.8006C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6956,
          "referenceAllele": "C",
          "start": 6955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6966,
          "referenceAllele": "C",
          "start": 6965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6953,
          "referenceAllele": "C",
          "start": 6952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6968,
          "referenceAllele": "C",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6965,
          "referenceAllele": "C",
          "start": 6964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.5683C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Gln1895Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6959,
          "referenceAllele": "C",
          "start": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6956,
          "referenceAllele": "C",
          "start": 6955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6969,
          "referenceAllele": "C",
          "start": 6968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6968,
          "referenceAllele": "C",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.5686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Gln1896Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6995,
          "referenceAllele": "C",
          "start": 6994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.6995C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6896,
          "referenceAllele": "C",
          "start": 6895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.5677C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Gln1893Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.5677C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.5677C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Gln1893Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Gln1893Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}