{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA340224541", "communityStandardTitle": [ "NM_000778.4(CYP4A11):c.897A>C (p.Lys299Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.47400125T>G?assembly=hg19", "id": "chr1:g.47400125T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.46934453T>G?assembly=hg38", "id": "chr1:g.46934453T>G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 46934453, "referenceAllele": "T", "start": 46934452 } ], "hgvs": [ "NC_000001.11:g.46934453T>G", "CM000663.2:g.46934453T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 47400125, "referenceAllele": "T", "start": 47400124 } ], "hgvs": [ "NC_000001.10:g.47400125T>G", "CM000663.1:g.47400125T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 47172712, "referenceAllele": "T", "start": 47172711 } ], "hgvs": [ "NC_000001.9:g.47172712T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "C", "end": 12032, "referenceAllele": "A", "start": 12031 } ], "hgvs": [ "NG_007932.1:g.12032A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000699" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000310638.9:c.897A>C" ], "proteinEffect": { "hgvs": "ENSP00000311095.4:p.Lys299Asn", "hgvsWellDefined": "ENSP00000311095.4:p.Lys299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS745653", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310638.9:c.897A>C" }, "RefSeq": { "hgvs": "NM_000778.4:c.897A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000311095.4:p.Lys299Asn" }, "RefSeq": { "hgvs": "NP_000769.2:p.Lys299Asn" } } } }, { "coordinates": [ { "allele": "C", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000310638.8:c.897A>C" ], "proteinEffect": { "hgvs": "ENSP00000311095.4:p.Lys299Asn", "hgvsWellDefined": "ENSP00000311095.4:p.Lys299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS256399" }, { "coordinates": [ { "allele": "C", "end": 923, "referenceAllele": "A", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000371904.8:c.900A>C" ], "proteinEffect": { "hgvs": "ENSP00000360971.4:p.Lys300Asn", "hgvsWellDefined": "ENSP00000360971.4:p.Lys300Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS268815" }, { "coordinates": [ { "allele": "C", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000371905.1:c.897A>C" ], "proteinEffect": { "hgvs": "ENSP00000360972.1:p.Lys299Asn", "hgvsWellDefined": "ENSP00000360972.1:p.Lys299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS268816" }, { "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000462347.5:c.742A>C" ], "proteinEffect": { "hgvs": "ENSP00000477495.1:p.Arg248=" }, "referenceSequence": "http://reg.genome.network/refseq/RS306628" }, { "coordinates": [ { "allele": "C", "end": 651, "endIntronDirection": "-", "endIntronOffset": 447, "referenceAllele": "A", "start": 651, "startIntronDirection": "-", "startIntronOffset": 448 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000465874.5:c.609-448A>C" ], "proteinEffect": { "hgvs": "ENSP00000476368.1:n.609-448A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS309382" }, { "coordinates": [ { "allele": "C", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000468629.5:c.801A>C" ], "proteinEffect": { "hgvs": "ENSP00000476619.1:p.Lys267Asn", "hgvsWellDefined": "ENSP00000476619.1:p.Lys267Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS311499" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000474458.5:c.742A>C" ], "proteinEffect": { "hgvs": "ENSP00000476988.1:p.Ser248Arg", "hgvsWellDefined": "ENSP00000476988.1:p.Ser248Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS315976" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "ENST00000475477.5:c.742A>C" ], "proteinEffect": { "hgvs": "ENSP00000476854.1:p.Arg248=" }, "referenceSequence": "http://reg.genome.network/refseq/RS316752" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "A", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_000778.3:c.897A>C" ], "proteinEffect": { "hgvs": "NP_000769.2:p.Lys299Asn", "hgvsWellDefined": "NP_000769.2:p.Lys299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006807" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_005270539.1:c.742A>C" ], "proteinEffect": { "hgvs": "XP_005270596.1:p.Arg248=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066562" }, { "coordinates": [ { "allele": "C", "end": 975, "referenceAllele": "A", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_011540826.1:c.915A>C" ], "proteinEffect": { "hgvs": "XP_011539128.1:p.Lys305Asn", "hgvsWellDefined": "XP_011539128.1:p.Lys305Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107770" }, { "coordinates": [ { "allele": "C", "end": 823, "referenceAllele": "A", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_011540827.1:c.760A>C" ], "proteinEffect": { "hgvs": "XP_011539129.1:p.Arg254=" }, "referenceSequence": "http://reg.genome.network/refseq/RS107771" }, { "coordinates": [ { "allele": "C", "end": 905, "referenceAllele": "A", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_011540828.1:c.603A>C" ], "proteinEffect": { "hgvs": "XP_011539130.1:p.Lys201Asn", "hgvsWellDefined": "XP_011539130.1:p.Lys201Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107772" }, { "coordinates": [ { "allele": "C", "end": 981, "referenceAllele": "A", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_011540829.1:c.915A>C" ], "proteinEffect": { "hgvs": "XP_011539131.1:p.Lys305Asn", "hgvsWellDefined": "XP_011539131.1:p.Lys305Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS107773" }, { "coordinates": [ { "allele": "C", "end": 826, "referenceAllele": "A", "start": 825 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_011540830.1:c.760A>C" ], "proteinEffect": { "hgvs": "XP_011539132.1:p.Asn254His", "hgvsWellDefined": "XP_011539132.1:p.Asn254His" }, "referenceSequence": "http://reg.genome.network/refseq/RS107774" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XR_246241.1:n.940A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS117145" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XR_246242.1:n.785A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS117146" }, { "coordinates": [ { "allele": "C", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_001319155.1:c.801A>C" ], "proteinEffect": { "hgvs": "NP_001306084.1:p.Lys267Asn", "hgvsWellDefined": "NP_001306084.1:p.Lys267Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS513270" }, { "@id": "http://reg.genome.network/allele/PA3065238646", "coordinates": [ { "allele": "C", "end": 794, "referenceAllele": "A", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_001363587.1:c.742A>C" ], "proteinEffect": { "hgvs": "NP_001350516.1:p.Arg248=" }, "referenceSequence": "http://reg.genome.network/refseq/RS523407" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134988.1:n.793A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527917" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134989.1:n.793A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527918" }, { "coordinates": [ { "allele": "C", "end": 852, "referenceAllele": "A", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134990.1:n.852A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527919" }, { "coordinates": [ { "allele": "C", "end": 774, "referenceAllele": "A", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134991.1:n.774A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527920" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134992.1:n.793A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527921" }, { "coordinates": [ { "allele": "C", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134993.1:n.793A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527922" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "A", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134994.1:n.948A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS527923" }, { "coordinates": [ { "allele": "C", "end": 867, "referenceAllele": "A", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XM_017000465.1:c.585A>C" ], "proteinEffect": { "hgvs": "XP_016855954.1:p.Lys195Asn", "hgvsWellDefined": "XP_016855954.1:p.Lys195Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS556836" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "XR_001737005.1:n.940A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS587842" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_000778.4:c.897A>C" ], "proteinEffect": { "hgvs": "NP_000769.2:p.Lys299Asn", "hgvsWellDefined": "NP_000769.2:p.Lys299Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS662573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310638.9:c.897A>C" }, "RefSeq": { "hgvs": "NM_000778.4:c.897A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000311095.4:p.Lys299Asn" }, "RefSeq": { "hgvs": "NP_000769.2:p.Lys299Asn" } } } }, { "coordinates": [ { "allele": "C", "end": 844, "referenceAllele": "A", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_001319155.2:c.801A>C" ], "proteinEffect": { "hgvs": "NP_001306084.1:p.Lys267Asn", "hgvsWellDefined": "NP_001306084.1:p.Lys267Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS684737" }, { "@id": "http://reg.genome.network/allele/PA3065238646", "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NM_001363587.2:c.742A>C" ], "proteinEffect": { "hgvs": "NP_001350516.1:p.Arg248=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690701" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134988.2:n.785A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703571" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134989.2:n.785A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703572" }, { "coordinates": [ { "allele": "C", "end": 844, "referenceAllele": "A", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134990.2:n.844A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703573" }, { "coordinates": [ { "allele": "C", "end": 766, "referenceAllele": "A", "start": 765 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134991.2:n.766A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703574" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134992.2:n.785A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703575" }, { "coordinates": [ { "allele": "C", "end": 785, "referenceAllele": "A", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134993.2:n.785A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703576" }, { "coordinates": [ { "allele": "C", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002642", "geneNCBI_id": 1579, "geneSymbol": "CYP4A11", "hgvs": [ "NR_134994.2:n.940A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS703577" } ], "type": "nucleotide" }