{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA368043656", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790756[alleleid]", "alleleId": 790756, "preferredName": "NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802329", "RCV": [ "RCV000987914" ], "variationId": 802329 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87072669A>C?assembly=hg19", "id": "chr7:g.87072669A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87443353A>C?assembly=hg38", "id": "chr7:g.87443353A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1584747270", "rs": 1584747270 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 87443353, "referenceAllele": "A", "start": 87443352 } ], "hgvs": [ "NC_000007.14:g.87443353A>C", "CM000669.2:g.87443353A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 87072669, "referenceAllele": "A", "start": 87072668 } ], "hgvs": [ "NC_000007.13:g.87072669A>C", "CM000669.1:g.87072669A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 86910605, "referenceAllele": "A", "start": 86910604 } ], "hgvs": [ "NC_000007.12:g.86910605A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 42080, "referenceAllele": "T", "start": 42079 } ], "hgvs": [ "NG_007118.1:g.42080T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "G", "end": 42080, "referenceAllele": "T", "start": 42079 } ], "hgvs": [ "NG_007118.2:g.42080T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1406, "referenceAllele": "T", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Leu441Arg", "hgvsWellDefined": "ENSP00000352135.3:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "G", "end": 1338, "referenceAllele": "T", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000643670.1:c.1338T>G" ], "proteinEffect": { "hgvs": "ENSP00000496629.1:n.1338T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767402" }, { "coordinates": [ { "allele": "G", "end": 1442, "referenceAllele": "T", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000644106.1:c.*859T>G" ], "proteinEffect": { "hgvs": "ENSP00000493477.1:n.*859T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767635" }, { "coordinates": [ { "allele": "G", "end": 1375, "referenceAllele": "T", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Leu441Arg", "hgvsWellDefined": "ENSP00000496956.2:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1322T>G" }, "RefSeq": { "hgvs": "NM_000443.4:c.1322T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Leu441Arg" }, "RefSeq": { "hgvs": "NP_000434.1:p.Leu441Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 1434, "referenceAllele": "T", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Leu441Arg", "hgvsWellDefined": "ENSP00000265723.4:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Leu441Arg", "hgvsWellDefined": "ENSP00000351172.3:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "G", "end": 1354, "referenceAllele": "T", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Leu441Arg", "hgvsWellDefined": "ENSP00000352135.3:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "G", "end": 1322, "referenceAllele": "T", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.1322T>G" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Leu441Arg", "hgvsWellDefined": "ENSP00000392983.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171628", "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Leu441Arg", "hgvsWellDefined": "NP_000434.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA2829919420", "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Leu441Arg", "hgvsWellDefined": "NP_061337.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "@id": "http://reg.genome.network/allele/PA916068184", "coordinates": [ { "allele": "G", "end": 1398, "referenceAllele": "T", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Leu441Arg", "hgvsWellDefined": "NP_061338.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514610.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "G", "end": 1412, "referenceAllele": "T", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514611.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514612.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514613.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514614.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "G", "end": 1412, "referenceAllele": "T", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Leu441Arg", "hgvsWellDefined": "XP_011514615.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "G", "end": 2719, "referenceAllele": "T", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.1343T>G" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Leu448Arg", "hgvsWellDefined": "XP_011514616.1:p.Leu448Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "G", "end": 798, "referenceAllele": "T", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.662T>G" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Leu221Arg", "hgvsWellDefined": "XP_011514617.1:p.Leu221Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "G", "end": 1418, "referenceAllele": "T", "start": 1417 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.1418T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "G", "end": 2277, "referenceAllele": "T", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Leu531Arg", "hgvsWellDefined": "XP_011514610.3:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "G", "end": 2273, "referenceAllele": "T", "start": 2272 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Leu531Arg", "hgvsWellDefined": "XP_011514611.3:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "G", "end": 2280, "referenceAllele": "T", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Leu531Arg", "hgvsWellDefined": "XP_011514612.3:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "G", "end": 2278, "referenceAllele": "T", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Leu531Arg", "hgvsWellDefined": "XP_011514613.3:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "G", "end": 2276, "referenceAllele": "T", "start": 2275 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Leu531Arg", "hgvsWellDefined": "XP_011514614.3:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "G", "end": 2271, "referenceAllele": "T", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.1592T>G" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Leu531Arg", "hgvsWellDefined": "XP_011514615.2:p.Leu531Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "G", "end": 798, "referenceAllele": "T", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.662T>G" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Leu221Arg", "hgvsWellDefined": "XP_011514617.2:p.Leu221Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "G", "end": 1409, "referenceAllele": "T", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.1322T>G" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Leu441Arg", "hgvsWellDefined": "XP_016867812.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "G", "end": 2093, "referenceAllele": "T", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.2093T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "G", "end": 2088, "referenceAllele": "T", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744810.2:n.2088T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS593461" }, { "@id": "http://reg.genome.network/allele/PA2825171628", "coordinates": [ { "allele": "G", "end": 1375, "referenceAllele": "T", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Leu441Arg", "hgvsWellDefined": "NP_000434.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1322T>G" }, "RefSeq": { "hgvs": "NM_000443.4:c.1322T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Leu441Arg" }, "RefSeq": { "hgvs": "NP_000434.1:p.Leu441Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2829919420", "coordinates": [ { "allele": "G", "end": 1375, "referenceAllele": "T", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Leu441Arg", "hgvsWellDefined": "NP_061337.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "@id": "http://reg.genome.network/allele/PA916068184", "coordinates": [ { "allele": "G", "end": 1375, "referenceAllele": "T", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.1322T>G" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Leu441Arg", "hgvsWellDefined": "NP_061338.1:p.Leu441Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }