{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4327275", "communityStandardTitle": [ "NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275489[alleleid]", "alleleId": 275489, "preferredName": "NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291252", "RCV": [ "RCV000427203", "RCV001003941", "RCV000987913", "RCV003333058", "RCV002298568", "RCV003989523", "RCV004537625" ], "variationId": 291252 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-87069546-T-C", "id": "7-87069546-T-C", "variant": "7:87069546 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87069546T>C?assembly=hg19", "id": "chr7:g.87069546T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.87440230T>C?assembly=hg38", "id": "chr7:g.87440230T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375315619", "rs": 375315619 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87069546-T-C?dataset=gnomad_r2_1", "id": "7-87069546-T-C", "variant": "7:87069546 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87440230-T-C?dataset=gnomad_r3", "id": "7-87440230-T-C", "variant": "7:87440230 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-87440230-T-C?dataset=gnomad_r4", "id": "7-87440230-T-C", "variant": "7:87440230 T / C" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 87440230, "referenceAllele": "T", "start": 87440229 } ], "hgvs": [ "NC_000007.14:g.87440230T>C", "CM000669.2:g.87440230T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 87069546, "referenceAllele": "T", "start": 87069545 } ], "hgvs": [ "NC_000007.13:g.87069546T>C", "CM000669.1:g.87069546T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 86907482, "referenceAllele": "T", "start": 86907481 } ], "hgvs": [ "NC_000007.12:g.86907482T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 45203, "referenceAllele": "A", "start": 45202 } ], "hgvs": [ "NG_007118.1:g.45203A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000492" }, { "coordinates": [ { "allele": "G", "end": 45203, "referenceAllele": "A", "start": 45202 } ], "hgvs": [ "NG_007118.2:g.45203A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS673479" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1613, "referenceAllele": "A", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.8:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Asn510Ser", "hgvsWellDefined": "ENSP00000352135.3:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS749162" }, { "coordinates": [ { "allele": "G", "end": 1545, "referenceAllele": "A", "start": 1544 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000643670.1:c.1545A>G" ], "proteinEffect": { "hgvs": "ENSP00000496629.1:n.1545A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767402" }, { "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "A", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000644106.1:c.*1066A>G" ], "proteinEffect": { "hgvs": "ENSP00000493477.1:n.*1066A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767635" }, { "coordinates": [ { "allele": "G", "end": 1582, "referenceAllele": "A", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000649586.2:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000496956.2:p.Asn510Ser", "hgvsWellDefined": "ENSP00000496956.2:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS770621", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1529A>G" }, "RefSeq": { "hgvs": "NM_000443.4:c.1529A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Asn510Ser" }, "RefSeq": { "hgvs": "NP_000434.1:p.Asn510Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 1641, "referenceAllele": "A", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000265723.8:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000265723.4:p.Asn510Ser", "hgvsWellDefined": "ENSP00000265723.4:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS251806" }, { "coordinates": [ { "allele": "G", "end": 1605, "referenceAllele": "A", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000358400.7:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000351172.3:p.Asn510Ser", "hgvsWellDefined": "ENSP00000351172.3:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS264440" }, { "coordinates": [ { "allele": "G", "end": 1561, "referenceAllele": "A", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000359206.7:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000352135.3:p.Asn510Ser", "hgvsWellDefined": "ENSP00000352135.3:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS264714" }, { "coordinates": [ { "allele": "G", "end": 1529, "referenceAllele": "A", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "ENST00000453593.5:c.1529A>G" ], "proteinEffect": { "hgvs": "ENSP00000392983.1:p.Asn510Ser", "hgvsWellDefined": "ENSP00000392983.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS302181" }, { "@id": "http://reg.genome.network/allele/PA2825171652", "coordinates": [ { "allele": "G", "end": 1605, "referenceAllele": "A", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.3:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Asn510Ser", "hgvsWellDefined": "NP_000434.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006505" }, { "@id": "http://reg.genome.network/allele/PA645402721", "coordinates": [ { "allele": "G", "end": 1605, "referenceAllele": "A", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.2:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Asn510Ser", "hgvsWellDefined": "NP_061337.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS035904" }, { "@id": "http://reg.genome.network/allele/PA916068220", "coordinates": [ { "allele": "G", "end": 1605, "referenceAllele": "A", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.2:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Asn510Ser", "hgvsWellDefined": "NP_061338.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS035905" }, { "coordinates": [ { "allele": "G", "end": 1620, "referenceAllele": "A", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514610.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514610.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083511" }, { "coordinates": [ { "allele": "G", "end": 1619, "referenceAllele": "A", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514611.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514611.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083512" }, { "coordinates": [ { "allele": "G", "end": 1620, "referenceAllele": "A", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514612.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514612.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083513" }, { "coordinates": [ { "allele": "G", "end": 1620, "referenceAllele": "A", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514613.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514613.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083514" }, { "coordinates": [ { "allele": "G", "end": 1620, "referenceAllele": "A", "start": 1619 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514614.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514614.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083515" }, { "coordinates": [ { "allele": "G", "end": 1619, "referenceAllele": "A", "start": 1618 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.1:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_011514615.1:p.Asn510Ser", "hgvsWellDefined": "XP_011514615.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083516" }, { "coordinates": [ { "allele": "G", "end": 2926, "referenceAllele": "A", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516314.1:c.1550A>G" ], "proteinEffect": { "hgvs": "XP_011514616.1:p.Asn517Ser", "hgvsWellDefined": "XP_011514616.1:p.Asn517Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083517" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.1:c.869A>G" ], "proteinEffect": { "hgvs": "XP_011514617.1:p.Asn290Ser", "hgvsWellDefined": "XP_011514617.1:p.Asn290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS083518" }, { "coordinates": [ { "allele": "G", "end": 1625, "referenceAllele": "A", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_927478.1:n.1625A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS123883" }, { "coordinates": [ { "allele": "G", "end": 2484, "referenceAllele": "A", "start": 2483 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516308.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514610.3:p.Asn600Ser", "hgvsWellDefined": "XP_011514610.3:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544111" }, { "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "A", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516309.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514611.3:p.Asn600Ser", "hgvsWellDefined": "XP_011514611.3:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544112" }, { "coordinates": [ { "allele": "G", "end": 2487, "referenceAllele": "A", "start": 2486 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516310.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514612.3:p.Asn600Ser", "hgvsWellDefined": "XP_011514612.3:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544113" }, { "coordinates": [ { "allele": "G", "end": 2485, "referenceAllele": "A", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516311.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514613.3:p.Asn600Ser", "hgvsWellDefined": "XP_011514613.3:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544114" }, { "coordinates": [ { "allele": "G", "end": 2483, "referenceAllele": "A", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516312.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514614.3:p.Asn600Ser", "hgvsWellDefined": "XP_011514614.3:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544115" }, { "coordinates": [ { "allele": "G", "end": 2478, "referenceAllele": "A", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516313.3:c.1799A>G" ], "proteinEffect": { "hgvs": "XP_011514615.2:p.Asn600Ser", "hgvsWellDefined": "XP_011514615.2:p.Asn600Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544116" }, { "coordinates": [ { "allele": "G", "end": 1005, "referenceAllele": "A", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_011516315.3:c.869A>G" ], "proteinEffect": { "hgvs": "XP_011514617.2:p.Asn290Ser", "hgvsWellDefined": "XP_011514617.2:p.Asn290Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544117" }, { "coordinates": [ { "allele": "G", "end": 1616, "referenceAllele": "A", "start": 1615 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XM_017012323.2:c.1529A>G" ], "proteinEffect": { "hgvs": "XP_016867812.1:p.Asn510Ser", "hgvsWellDefined": "XP_016867812.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS565953" }, { "coordinates": [ { "allele": "G", "end": 2300, "referenceAllele": "A", "start": 2299 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744809.2:n.2300A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS593460" }, { "coordinates": [ { "allele": "G", "end": 2295, "referenceAllele": "A", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "XR_001744810.2:n.2295A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS593461" }, { "@id": "http://reg.genome.network/allele/PA2825171652", "coordinates": [ { "allele": "G", "end": 1582, "referenceAllele": "A", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_000443.4:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_000434.1:p.Asn510Ser", "hgvsWellDefined": "NP_000434.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000649586.2:c.1529A>G" }, "RefSeq": { "hgvs": "NM_000443.4:c.1529A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496956.2:p.Asn510Ser" }, "RefSeq": { "hgvs": "NP_000434.1:p.Asn510Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA645402721", "coordinates": [ { "allele": "G", "end": 1582, "referenceAllele": "A", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018849.3:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_061337.1:p.Asn510Ser", "hgvsWellDefined": "NP_061337.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS698090" }, { "@id": "http://reg.genome.network/allele/PA916068220", "coordinates": [ { "allele": "G", "end": 1582, "referenceAllele": "A", "start": 1581 } ], "gene": "http://reg.genome.network/gene/GN000045", "geneNCBI_id": 5244, "geneSymbol": "ABCB4", "hgvs": [ "NM_018850.3:c.1529A>G" ], "proteinEffect": { "hgvs": "NP_061338.1:p.Asn510Ser", "hgvsWellDefined": "NP_061338.1:p.Asn510Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS728359" } ], "type": "nucleotide" }