{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10602382", "communityStandardTitle": [ "NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=97568[alleleid]", "alleleId": 97568, "preferredName": "NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92165", "RCV": [ "RCV000077799", "RCV000650650" ], "variationId": 92165 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.138671269T>A?assembly=hg19", "id": "chr9:g.138671269T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135779423T>A?assembly=hg38", "id": "chr9:g.135779423T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886044717", "rs": 886044717 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 135779423, "referenceAllele": "T", "start": 135779422 } ], "hgvs": [ "NC_000009.12:g.135779423T>A", "CM000671.2:g.135779423T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 138671269, "referenceAllele": "T", "start": 138671268 } ], "hgvs": [ "NC_000009.11:g.138671269T>A", "CM000671.1:g.138671269T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 137811090, "referenceAllele": "T", "start": 137811089 } ], "hgvs": [ "NC_000009.10:g.137811090T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 82239, "referenceAllele": "T", "start": 82238 } ], "hgvs": [ "NG_033070.1:g.82239T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "T", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.7:c.2794T>A" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Phe932Ile", "hgvsWellDefined": "ENSP00000360822.2:p.Phe932Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS750860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.2794T>A" }, "RefSeq": { "hgvs": "NM_020822.3:c.2794T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Phe932Ile" }, "RefSeq": { "hgvs": "NP_065873.2:p.Phe932Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "T", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000674572.1:c.2635T>A" ], "proteinEffect": { "hgvs": "ENSP00000501742.1:p.Phe879Ile", "hgvsWellDefined": "ENSP00000501742.1:p.Phe879Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS774520" }, { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "T", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675090.1:c.2542T>A" ], "proteinEffect": { "hgvs": "ENSP00000501833.1:p.Phe848Ile", "hgvsWellDefined": "ENSP00000501833.1:p.Phe848Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS774959" }, { "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "T", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675102.1:n.1328T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774970" }, { "coordinates": [ { "allele": "A", "end": 2632, "referenceAllele": "T", "start": 2631 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675399.1:c.2542T>A" ], "proteinEffect": { "hgvs": "ENSP00000501932.1:p.Phe848Ile", "hgvsWellDefined": "ENSP00000501932.1:p.Phe848Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS775224" }, { "coordinates": [ { "allele": "A", "end": 2635, "referenceAllele": "T", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000676421.1:c.2551T>A" ], "proteinEffect": { "hgvs": "ENSP00000502322.1:p.Phe851Ile", "hgvsWellDefined": "ENSP00000502322.1:p.Phe851Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS776104" }, { "coordinates": [ { "allele": "A", "end": 2811, "referenceAllele": "T", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000263604.5:c.2695T>A" ], "proteinEffect": { "hgvs": "ENSP00000263604.4:p.Phe899Ile", "hgvsWellDefined": "ENSP00000263604.4:p.Phe899Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS251298" }, { "coordinates": [ { "allele": "A", "end": 2861, "referenceAllele": "T", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.6:c.2794T>A" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Phe932Ile", "hgvsWellDefined": "ENSP00000360822.2:p.Phe932Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS268741" }, { "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "T", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000460750.5:c.*2404T>A" ], "proteinEffect": { "hgvs": "ENSP00000418777.1:n.*2404T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305420" }, { "coordinates": [ { "allele": "A", "end": 2783, "referenceAllele": "T", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000486577.6:c.2677T>A" ], "proteinEffect": { "hgvs": "ENSP00000417578.3:p.Phe893Ile", "hgvsWellDefined": "ENSP00000417578.3:p.Phe893Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS325351" }, { "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "T", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000487664.5:c.2794T>A" ], "proteinEffect": { "hgvs": "ENSP00000417851.2:p.Phe932Ile", "hgvsWellDefined": "ENSP00000417851.2:p.Phe932Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS326178" }, { "coordinates": [ { "allele": "A", "end": 2740, "referenceAllele": "T", "start": 2739 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000488444.6:c.2737T>A" ], "proteinEffect": { "hgvs": "ENSP00000419007.3:p.Phe913Ile", "hgvsWellDefined": "ENSP00000419007.3:p.Phe913Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS326748" }, { "coordinates": [ { "allele": "A", "end": 2731, "referenceAllele": "T", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490355.6:c.2731T>A" ], "proteinEffect": { "hgvs": "ENSP00000418003.3:p.Phe911Ile", "hgvsWellDefined": "ENSP00000418003.3:p.Phe911Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS328197" }, { "coordinates": [ { "allele": "A", "end": 2613, "referenceAllele": "T", "start": 2612 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490363.3:n.2613T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328204" }, { "coordinates": [ { "allele": "A", "end": 2755, "referenceAllele": "T", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000491806.6:c.2737T>A" ], "proteinEffect": { "hgvs": "ENSP00000419086.3:p.Phe913Ile", "hgvsWellDefined": "ENSP00000419086.3:p.Phe913Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS329331" }, { "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "T", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000628528.2:c.2659T>A" ], "proteinEffect": { "hgvs": "ENSP00000486374.1:p.Phe887Ile", "hgvsWellDefined": "ENSP00000486374.1:p.Phe887Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407060" }, { "coordinates": [ { "allele": "A", "end": 2629, "referenceAllele": "T", "start": 2628 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000630792.2:c.2629T>A" ], "proteinEffect": { "hgvs": "ENSP00000486486.1:p.Phe877Ile", "hgvsWellDefined": "ENSP00000486486.1:p.Phe877Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407420" }, { "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "T", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631073.2:c.2737T>A" ], "proteinEffect": { "hgvs": "ENSP00000486130.1:p.Phe913Ile", "hgvsWellDefined": "ENSP00000486130.1:p.Phe913Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407470" }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "T", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631193.1:c.660T>A" ], "proteinEffect": { "hgvs": "ENSP00000486830.1:n.660T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407488" }, { "@id": "http://reg.genome.network/allele/PA2826548405", "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "T", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.1:c.2659T>A" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Phe887Ile", "hgvsWellDefined": "NP_001258932.1:p.Phe887Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS020772" }, { "@id": "http://reg.genome.network/allele/PA645408580", "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "T", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.2:c.2794T>A" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Phe932Ile", "hgvsWellDefined": "NP_065873.2:p.Phe932Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS036617" }, { "coordinates": [ { "allele": "A", "end": 3807, "referenceAllele": "T", "start": 3806 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.1:c.2929T>A" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Phe977Ile", "hgvsWellDefined": "XP_011517179.1:p.Phe977Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086051" }, { "coordinates": [ { "allele": "A", "end": 3816, "referenceAllele": "T", "start": 3815 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.1:c.2938T>A" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Phe980Ile", "hgvsWellDefined": "XP_011517180.1:p.Phe980Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086052" }, { "coordinates": [ { "allele": "A", "end": 3807, "referenceAllele": "T", "start": 3806 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.1:c.2929T>A" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Phe977Ile", "hgvsWellDefined": "XP_011517181.1:p.Phe977Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086053" }, { "coordinates": [ { "allele": "A", "end": 2695, "referenceAllele": "T", "start": 2694 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518880.1:c.2695T>A" ], "proteinEffect": { "hgvs": "XP_011517182.1:p.Phe899Ile", "hgvsWellDefined": "XP_011517182.1:p.Phe899Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086054" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "T", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.1:c.2284T>A" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Phe762Ile", "hgvsWellDefined": "XP_011517183.1:p.Phe762Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086055" }, { "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "T", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.3:c.2929T>A" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Phe977Ile", "hgvsWellDefined": "XP_011517179.1:p.Phe977Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS545105" }, { "coordinates": [ { "allele": "A", "end": 2952, "referenceAllele": "T", "start": 2951 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.3:c.2938T>A" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Phe980Ile", "hgvsWellDefined": "XP_011517180.1:p.Phe980Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS545106" }, { "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "T", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.3:c.2929T>A" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Phe977Ile", "hgvsWellDefined": "XP_011517181.1:p.Phe977Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS545107" }, { "coordinates": [ { "allele": "A", "end": 3756, "referenceAllele": "T", "start": 3755 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.3:c.2284T>A" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Phe762Ile", "hgvsWellDefined": "XP_011517183.1:p.Phe762Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS545108" }, { "coordinates": [ { "allele": "A", "end": 2743, "referenceAllele": "T", "start": 2742 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014931.1:c.2728T>A" ], "proteinEffect": { "hgvs": "XP_016870420.1:p.Phe910Ile", "hgvsWellDefined": "XP_016870420.1:p.Phe910Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS567773" }, { "coordinates": [ { "allele": "A", "end": 2635, "referenceAllele": "T", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014932.1:c.2551T>A" ], "proteinEffect": { "hgvs": "XP_016870421.1:p.Phe851Ile", "hgvsWellDefined": "XP_016870421.1:p.Phe851Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS567774" }, { "coordinates": [ { "allele": "A", "end": 2462, "referenceAllele": "T", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014933.1:c.2284T>A" ], "proteinEffect": { "hgvs": "XP_016870422.1:p.Phe762Ile", "hgvsWellDefined": "XP_016870422.1:p.Phe762Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS567775" }, { "coordinates": [ { "allele": "A", "end": 2815, "referenceAllele": "T", "start": 2814 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447617.1:c.2284T>A" ], "proteinEffect": { "hgvs": "XP_024303385.1:p.Phe762Ile", "hgvsWellDefined": "XP_024303385.1:p.Phe762Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS581198" }, { "coordinates": [ { "allele": "A", "end": 2568, "referenceAllele": "T", "start": 2567 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447618.1:c.2284T>A" ], "proteinEffect": { "hgvs": "XP_024303386.1:p.Phe762Ile", "hgvsWellDefined": "XP_024303386.1:p.Phe762Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS581199" }, { "@id": "http://reg.genome.network/allele/PA645408580", "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "T", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.2794T>A" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Phe932Ile", "hgvsWellDefined": "NP_065873.2:p.Phe932Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.2794T>A" }, "RefSeq": { "hgvs": "NM_020822.3:c.2794T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Phe932Ile" }, "RefSeq": { "hgvs": "NP_065873.2:p.Phe932Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2826548405", "coordinates": [ { "allele": "A", "end": 2733, "referenceAllele": "T", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.2659T>A" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Phe887Ile", "hgvsWellDefined": "NP_001258932.1:p.Phe887Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }