{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11682106",
  "communityStandardTitle": [
    "NM_025221.6(KCNIP4):c.61+473204G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.21476990C>T?assembly=hg19",
        "id": "chr4:g.21476990C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.21475367C>T?assembly=hg38",
        "id": "chr4:g.21475367C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/358592",
        "rs": 358592
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-21476990-C-T?dataset=gnomad_r2_1",
        "id": "4-21476990-C-T",
        "variant": "4:21476990 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-21475367-C-T?dataset=gnomad_r3",
        "id": "4-21475367-C-T",
        "variant": "4:21475367 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-21475367-C-T?dataset=gnomad_r4",
        "id": "4-21475367-C-T",
        "variant": "4:21475367 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 21475367,
          "referenceAllele": "C",
          "start": 21475366
        }
      ],
      "hgvs": [
        "NC_000004.12:g.21475367C>T",
        "CM000666.2:g.21475367C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 21476990,
          "referenceAllele": "C",
          "start": 21476989
        }
      ],
      "hgvs": [
        "NC_000004.11:g.21476990C>T",
        "CM000666.1:g.21476990C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 21086088,
          "referenceAllele": "C",
          "start": 21086087
        }
      ],
      "hgvs": [
        "NC_000004.10:g.21086088C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478385,
          "referenceAllele": "G",
          "start": 478384
        }
      ],
      "hgvs": [
        "NG_052969.1:g.478385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617280"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000382152.7:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371587.2:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382152.7:c.61+473204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025221.6:c.61+473204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371587.2:n.61+473204G>A"
          },
          "RefSeq": {
            "hgvs": "NP_079497.2:n.61+473204G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 221983,
          "referenceAllele": "G",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 221982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000382148.7:c.88+221983G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371583.3:n.88+221983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000382152.6:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371587.2:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000447367.6:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399080.2:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 69023,
          "referenceAllele": "G",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 69022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000509207.1:c.-24+69023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423257.1:n.-24+69023G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 287554,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 287553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "ENST00000515786.2:c.173+287554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445321.1:n.173+287554G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "endIntronDirection": "+",
          "endIntronOffset": 221983,
          "referenceAllele": "G",
          "start": 346,
          "startIntronDirection": "+",
          "startIntronOffset": 221982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_001035003.1:c.88+221983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030175.1:n.88+221983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 69023,
          "referenceAllele": "G",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 69022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_001035004.1:c.-24+69023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030176.1:n.-24+69023G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_025221.5:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079497.2:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_147181.3:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_671710.1:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "endIntronDirection": "+",
          "endIntronOffset": 287554,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "+",
          "startIntronOffset": 287553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_147182.3:c.-24+287554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_671711.1:n.-24+287554G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513882.1:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512184.1:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 221983,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 221982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513885.1:c.88+221983G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512187.1:n.88+221983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 231,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513886.1:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512188.1:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 69023,
          "referenceAllele": "G",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 69022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513887.1:c.-24+69023G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512189.1:n.-24+69023G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "endIntronDirection": "+",
          "endIntronOffset": 287554,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "+",
          "startIntronOffset": 287553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513888.1:c.-24+287554G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512190.1:n.-24+287554G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5517,
          "endIntronDirection": "+",
          "endIntronOffset": 221983,
          "referenceAllele": "G",
          "start": 5517,
          "startIntronDirection": "+",
          "startIntronOffset": 221982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513885.3:c.88+221983G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512187.1:n.88+221983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "endIntronDirection": "+",
          "endIntronOffset": 69023,
          "referenceAllele": "G",
          "start": 996,
          "startIntronDirection": "+",
          "startIntronOffset": 69022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "XM_011513887.2:c.-24+69023G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512189.1:n.-24+69023G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_025221.6:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079497.2:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382152.7:c.61+473204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_025221.6:c.61+473204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371587.2:n.61+473204G>A"
          },
          "RefSeq": {
            "hgvs": "NP_079497.2:n.61+473204G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 221983,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 221982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_001035003.2:c.88+221983G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030175.1:n.88+221983G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 69023,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 69022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_001035004.2:c.-24+69023G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030176.1:n.-24+69023G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "endIntronDirection": "+",
          "endIntronOffset": 473204,
          "referenceAllele": "G",
          "start": 202,
          "startIntronDirection": "+",
          "startIntronOffset": 473203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_147181.4:c.61+473204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_671710.1:n.61+473204G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "+",
          "endIntronOffset": 287554,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "+",
          "startIntronOffset": 287553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030083",
      "geneNCBI_id": 80333,
      "geneSymbol": "KCNIP4",
      "hgvs": [
        "NM_147182.4:c.-24+287554G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_671711.1:n.-24+287554G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729327"
    }
  ],
  "type": "nucleotide"
}