{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA236622172",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=538010[alleleid]",
        "alleleId": 538010,
        "preferredName": "NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547401",
        "RCV": [
          "RCV000659694",
          "RCV002534325"
        ],
        "variationId": 547401
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49447003G>C?assembly=hg19",
        "id": "chr12:g.49447003G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49053220G>C?assembly=hg38",
        "id": "chr12:g.49053220G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1043654062",
        "rs": 1043654062
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49053220-G-C?dataset=gnomad_r3",
        "id": "12-49053220-G-C",
        "variant": "12:49053220 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49053220-G-C?dataset=gnomad_r4",
        "id": "12-49053220-G-C",
        "variant": "12:49053220 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49053220,
          "referenceAllele": "G",
          "start": 49053219
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49053220G>C",
        "CM000674.2:g.49053220G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 49447003,
          "referenceAllele": "G",
          "start": 49447002
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49447003G>C",
        "CM000674.1:g.49447003G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47733270,
          "referenceAllele": "G",
          "start": 47733269
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47733270G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7105,
          "referenceAllele": "C",
          "start": 7104
        }
      ],
      "hgvs": [
        "NG_027827.1:g.7105C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Ser314Cys",
        "hgvsWellDefined": "ENSP00000506726.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Ser314Cys",
        "hgvsWellDefined": "ENSP00000509386.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000686968.1:c.431C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509151.1:p.Ser144Cys",
        "hgvsWellDefined": "ENSP00000509151.1:p.Ser144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2050,
          "referenceAllele": "C",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692465.1:c.*285C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508680.1:n.*285C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Ser314Cys",
        "hgvsWellDefined": "ENSP00000509666.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser314Cys",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.941C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.941C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser314Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser314Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ser314Cys",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830416",
      "coordinates": [
        {
          "allele": "G",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser314Cys",
        "hgvsWellDefined": "NP_003473.3:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_005269219.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_006719677.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2234,
          "referenceAllele": "C",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_006719679.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537072.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537073.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537074.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537075.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2243,
          "referenceAllele": "C",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537076.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537077.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537078.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "C",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.3261C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_005269219.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_006719677.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_006719679.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537072.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537073.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537074.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537075.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2224,
          "referenceAllele": "C",
          "start": 2223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537076.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ser314Cys",
        "hgvsWellDefined": "XP_011537078.1:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.2250C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830416",
      "coordinates": [
        {
          "allele": "G",
          "end": 2160,
          "referenceAllele": "C",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.941C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ser314Cys",
        "hgvsWellDefined": "NP_003473.3:p.Ser314Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.941C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.941C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ser314Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ser314Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}