{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6545642",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.14896C>T (p.Arg4966Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1903516[alleleid]",
        "alleleId": 1903516,
        "preferredName": "NM_003482.4(KMT2D):c.14896C>T (p.Arg4966Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2169569",
        "RCV": [
          "RCV004536612",
          "RCV003093197"
        ],
        "variationId": 2169569
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49420853-G-A",
        "id": "12-49420853-G-A",
        "variant": "12:49420853 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49420853G>A?assembly=hg19",
        "id": "chr12:g.49420853G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49027070G>A?assembly=hg38",
        "id": "chr12:g.49027070G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773818669",
        "rs": 773818669
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49420853-G-A?dataset=gnomad_r2_1",
        "id": "12-49420853-G-A",
        "variant": "12:49420853 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49027070-G-A?dataset=gnomad_r3",
        "id": "12-49027070-G-A",
        "variant": "12:49027070 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49027070-G-A?dataset=gnomad_r4",
        "id": "12-49027070-G-A",
        "variant": "12:49027070 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49027070,
          "referenceAllele": "G",
          "start": 49027069
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49027070G>A",
        "CM000674.2:g.49027070G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 49420853,
          "referenceAllele": "G",
          "start": 49420852
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49420853G>A",
        "CM000674.1:g.49420853G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 47707120,
          "referenceAllele": "G",
          "start": 47707119
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47707120G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33255,
          "referenceAllele": "C",
          "start": 33254
        }
      ],
      "hgvs": [
        "NG_027827.1:g.33255C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16115,
          "referenceAllele": "C",
          "start": 16114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Arg4966Trp",
        "hgvsWellDefined": "ENSP00000506726.1:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "C",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685024.1:c.21C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14905,
          "referenceAllele": "C",
          "start": 14904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.14905C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Arg4969Trp",
        "hgvsWellDefined": "ENSP00000509386.1:p.Arg4969Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "C",
          "start": 261,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000688411.1:c.261+733C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510146.1:n.261+733C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000691463.1:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510624.1:p.Pro94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14893,
          "referenceAllele": "C",
          "start": 14892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.14893C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Arg4965Trp",
        "hgvsWellDefined": "ENSP00000509666.1:p.Arg4965Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16115,
          "referenceAllele": "C",
          "start": 16114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg4966Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14896C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14896C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg4966Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg4966Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14896,
          "referenceAllele": "C",
          "start": 14895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Arg4966Trp",
        "hgvsWellDefined": "ENSP00000301067.7:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580285144",
      "coordinates": [
        {
          "allele": "T",
          "end": 14896,
          "referenceAllele": "C",
          "start": 14895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4966Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16190,
          "referenceAllele": "C",
          "start": 16189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg4966Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16199,
          "referenceAllele": "C",
          "start": 16198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.14905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg4969Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg4969Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16186,
          "referenceAllele": "C",
          "start": 16185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.14893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4965Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4965Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16206,
          "referenceAllele": "C",
          "start": 16205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.14905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg4969Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg4969Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16203,
          "referenceAllele": "C",
          "start": 16202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.14902C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg4968Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg4968Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16196,
          "referenceAllele": "C",
          "start": 16195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg4966Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16193,
          "referenceAllele": "C",
          "start": 16192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.14893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg4965Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg4965Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16186,
          "referenceAllele": "C",
          "start": 16185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.14884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg4962Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg4962Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16143,
          "referenceAllele": "C",
          "start": 16142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.14839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Arg4947Trp",
        "hgvsWellDefined": "XP_011537077.1:p.Arg4947Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16113,
          "referenceAllele": "C",
          "start": 16112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.14812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg4938Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg4938Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16972,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "C",
          "start": 16972,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.16972+733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16175,
          "referenceAllele": "C",
          "start": 16174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg4966Trp",
        "hgvsWellDefined": "XP_005269219.1:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16185,
          "referenceAllele": "C",
          "start": 16184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.14905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg4969Trp",
        "hgvsWellDefined": "XP_006719677.1:p.Arg4969Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16172,
          "referenceAllele": "C",
          "start": 16171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.14893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4965Trp",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4965Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16187,
          "referenceAllele": "C",
          "start": 16186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.14905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg4969Trp",
        "hgvsWellDefined": "XP_011537072.1:p.Arg4969Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16184,
          "referenceAllele": "C",
          "start": 16183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.14902C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg4968Trp",
        "hgvsWellDefined": "XP_011537073.1:p.Arg4968Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16178,
          "referenceAllele": "C",
          "start": 16177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg4966Trp",
        "hgvsWellDefined": "XP_011537074.1:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16175,
          "referenceAllele": "C",
          "start": 16174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.14893C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg4965Trp",
        "hgvsWellDefined": "XP_011537075.1:p.Arg4965Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16167,
          "referenceAllele": "C",
          "start": 16166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.14884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Arg4962Trp",
        "hgvsWellDefined": "XP_011537076.1:p.Arg4962Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16094,
          "referenceAllele": "C",
          "start": 16093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.14812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg4938Trp",
        "hgvsWellDefined": "XP_011537078.1:p.Arg4938Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15961,
          "endIntronDirection": "+",
          "endIntronOffset": 733,
          "referenceAllele": "C",
          "start": 15961,
          "startIntronDirection": "+",
          "startIntronOffset": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.15961+733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580285144",
      "coordinates": [
        {
          "allele": "T",
          "end": 16115,
          "referenceAllele": "C",
          "start": 16114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.14896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4966Trp",
        "hgvsWellDefined": "NP_003473.3:p.Arg4966Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14896C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14896C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg4966Trp"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg4966Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}