{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4327213", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790754[alleleid]", "alleleId": 790754, "preferredName": "NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802327", "RCV": [ "RCV000987910", "RCV003158272" ], "variationId": 802327 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-87060868-C-T", "id": "7-87060868-C-T", "variant": "7:87060868 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87060868C>T?assembly=hg19", "id": "chr7:g.87060868C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87431552C>T?assembly=hg38", "id": "chr7:g.87431552C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760153272", "rs": 760153272 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87060868-C-T?dataset=gnomad_r2_1", "id": "7-87060868-C-T", "variant": "7:87060868 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87431552-C-T?dataset=gnomad_r3", "id": "7-87431552-C-T", "variant": "7:87431552 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87431552-C-T?dataset=gnomad_r4", "id": "7-87431552-C-T", "variant": "7:87431552 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 87431552, "referenceAllele": "C", "start": 87431551 } ], "hgvs": [ "NC_000007.14:g.87431552C>T", "CM000669.2:g.87431552C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 87060868, "referenceAllele": "C", "start": 87060867 } ], "hgvs": [ "NC_000007.13:g.87060868C>T", "CM000669.1:g.87060868C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 86898804, "referenceAllele": "C", "start": 86898803 } ], "hgvs": [ "NC_000007.12:g.86898804C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 53881, "referenceAllele": "G", "start": 53880 } ], "hgvs": [ "NG_007118.1:g.53881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "A", "end": 53881, "referenceAllele": "G", "start": 53880 } ], "hgvs": [ "NG_007118.2:g.53881G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1829, "referenceAllele": "G", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Arg582Gln", "hgvsWellDefined": "ENSP00000352135.3:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "A", "end": 1761, "referenceAllele": "G", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000643670.1:c.1761G>A" ], "proteinEffect": { "hgvs": "ENSP00000496629.1:n.1761G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767402" }, { "coordinates": [ { "allele": "A", "end": 1865, "referenceAllele": "G", "start": 1864 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000644106.1:c.*1282G>A" ], "proteinEffect": { "hgvs": "ENSP00000493477.1:n.*1282G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767635" }, { "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Arg582Gln", "hgvsWellDefined": "ENSP00000496956.2:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1745G>A" }, "RefSeq": { "hgvs": "NM_000443.4:c.1745G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg582Gln" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg582Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1857, "referenceAllele": "G", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Arg582Gln", "hgvsWellDefined": "ENSP00000265723.4:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "A", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Arg582Gln", "hgvsWellDefined": "ENSP00000351172.3:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Arg582Gln", "hgvsWellDefined": "ENSP00000352135.3:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "A", "end": 1745, "referenceAllele": "G", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.1745G>A" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Arg582Gln", "hgvsWellDefined": "ENSP00000392983.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171689", "coordinates": [ { "allele": "A", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg582Gln", "hgvsWellDefined": "NP_000434.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA2829919466", "coordinates": [ { "allele": "A", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg582Gln", "hgvsWellDefined": "NP_061337.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "@id": "http://reg.genome.network/allele/PA916068266", "coordinates": [ { "allele": "A", "end": 1821, "referenceAllele": "G", "start": 1820 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Arg582Gln", "hgvsWellDefined": "NP_061338.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "A", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514610.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "A", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514611.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "A", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514612.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "A", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514613.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "A", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514614.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "A", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Arg582Gln", "hgvsWellDefined": "XP_011514615.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "A", "end": 3142, "referenceAllele": "G", "start": 3141 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.1766G>A" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Arg589Gln", "hgvsWellDefined": "XP_011514616.1:p.Arg589Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "A", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Arg362Gln", "hgvsWellDefined": "XP_011514617.1:p.Arg362Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "G", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.1841G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "A", "end": 2700, "referenceAllele": "G", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Arg672Gln", "hgvsWellDefined": "XP_011514610.3:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "A", "end": 2696, "referenceAllele": "G", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Arg672Gln", "hgvsWellDefined": "XP_011514611.3:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "A", "end": 2703, "referenceAllele": "G", "start": 2702 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Arg672Gln", "hgvsWellDefined": "XP_011514612.3:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "A", "end": 2701, "referenceAllele": "G", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Arg672Gln", "hgvsWellDefined": "XP_011514613.3:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Arg672Gln", "hgvsWellDefined": "XP_011514614.3:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "A", "end": 2694, "referenceAllele": "G", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.2015G>A" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Arg672Gln", "hgvsWellDefined": "XP_011514615.2:p.Arg672Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "A", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.1085G>A" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Arg362Gln", "hgvsWellDefined": "XP_011514617.2:p.Arg362Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "A", "end": 1832, "referenceAllele": "G", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.1745G>A" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Arg582Gln", "hgvsWellDefined": "XP_016867812.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "A", "end": 2516, "referenceAllele": "G", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.2516G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "A", "end": 2511, "referenceAllele": "G", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744810.2:n.2511G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593461" }, { "@id": "http://reg.genome.network/allele/PA2825171689", "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Arg582Gln", "hgvsWellDefined": "NP_000434.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1745G>A" }, "RefSeq": { "hgvs": "NM_000443.4:c.1745G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Arg582Gln" }, "RefSeq": { "hgvs": "NP_000434.1:p.Arg582Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2829919466", "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Arg582Gln", "hgvsWellDefined": "NP_061337.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "@id": "http://reg.genome.network/allele/PA916068266", "coordinates": [ { "allele": "A", "end": 1798, "referenceAllele": "G", "start": 1797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.1745G>A" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Arg582Gln", "hgvsWellDefined": "NP_061338.1:p.Arg582Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }