{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA284955", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79434[alleleid]", "alleleId": 79434, "preferredName": "NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68542", "RCV": [ "RCV000059416" ], "variationId": 68542 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166856274C>T?assembly=hg19", "id": "chr2:g.166856274C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.165999764C>T?assembly=hg38", "id": "chr2:g.165999764C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121917908", "rs": 121917908 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 165999764, "referenceAllele": "C", "start": 165999763 } ], "hgvs": [ "NC_000002.12:g.165999764C>T", "CM000664.2:g.165999764C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166856274, "referenceAllele": "C", "start": 166856273 } ], "hgvs": [ "NC_000002.11:g.166856274C>T", "CM000664.1:g.166856274C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166564520, "referenceAllele": "C", "start": 166564519 } ], "hgvs": [ "NC_000002.10:g.166564520C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 78876, "referenceAllele": "G", "start": 78875 } ], "hgvs": [ "NG_011906.1:g.78876G>A", "LRG_8:g.78876G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4440, "referenceAllele": "G", "start": 4439 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*2333G>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*2333G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 4688, "referenceAllele": "G", "start": 4687 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.4297G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Gly1433Arg", "hgvsWellDefined": "ENSP00000303540.4:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "G", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.4264G>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Gly1422Arg", "hgvsWellDefined": "ENSP00000490799.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 4566, "referenceAllele": "G", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.4264G>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Gly1422Arg", "hgvsWellDefined": "ENSP00000490692.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 28, "referenceAllele": "G", "start": 27 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635893.1:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000489986.1:p.Gly10Arg", "hgvsWellDefined": "ENSP00000489986.1:p.Gly10Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762718" }, { "coordinates": [ { "allele": "A", "end": 4690, "referenceAllele": "G", "start": 4689 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*1790G>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*1790G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637038.1:c.1159G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763565" }, { "coordinates": [ { "allele": "A", "end": 4744, "referenceAllele": "G", "start": 4743 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.4264G>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Gly1422Arg", "hgvsWellDefined": "ENSP00000490780.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 4313, "referenceAllele": "G", "start": 4312 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.4264G>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Gly1422Arg", "hgvsWellDefined": "ENSP00000491573.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 4537, "referenceAllele": "G", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.4261G>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Gly1421Arg", "hgvsWellDefined": "ENSP00000492917.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 4169, "referenceAllele": "G", "start": 4168 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.4015G>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Gly1339Arg", "hgvsWellDefined": "ENSP00000492945.1:p.Gly1339Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 4566, "referenceAllele": "G", "start": 4565 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*3851G>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*3851G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 4516, "referenceAllele": "G", "start": 4515 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*2240G>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*2240G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 6770, "referenceAllele": "G", "start": 6769 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.6770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 4775, "referenceAllele": "G", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.4297G>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Gly1433Arg", "hgvsWellDefined": "ENSP00000501589.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4297G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4297G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Gly1433Arg" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Gly1433Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 4715, "referenceAllele": "G", "start": 4714 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.4297G>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Gly1433Arg", "hgvsWellDefined": "ENSP00000303540.4:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 4282, "referenceAllele": "G", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.4264G>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Gly1422Arg", "hgvsWellDefined": "ENSP00000364554.3:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 4213, "referenceAllele": "G", "start": 4212 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.4213G>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Gly1405Arg", "hgvsWellDefined": "ENSP00000386312.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 4373, "referenceAllele": "G", "start": 4372 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.4297G>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Gly1433Arg", "hgvsWellDefined": "ENSP00000407030.2:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000473295.2:n.300G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315079" }, { "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000491429.1:n.450G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329030" }, { "@id": "http://reg.genome.network/allele/PA107608", "coordinates": [ { "allele": "A", "end": 4315, "referenceAllele": "G", "start": 4314 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001159435.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826013335", "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001159436.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259940", "coordinates": [ { "allele": "A", "end": 4524, "referenceAllele": "G", "start": 4523 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001189364.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA284957", "coordinates": [ { "allele": "A", "end": 4282, "referenceAllele": "G", "start": 4281 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.4264G>A", "LRG_8t1:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gly1422Arg", "hgvsWellDefined": "NP_008851.3:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "T", "end": 175, "endIntronDirection": "-", "endIntronOffset": 15848, "referenceAllele": "C", "start": 175, "startIntronDirection": "-", "startIntronOffset": 15849 } ], "hgvs": [ "NR_110598.1:n.176-15849C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054761" }, { "coordinates": [ { "allele": "A", "end": 4481, "referenceAllele": "G", "start": 4480 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.4297G>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Gly1433Arg", "hgvsWellDefined": "XP_011509900.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 4696, "referenceAllele": "G", "start": 4695 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.4297G>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Gly1433Arg", "hgvsWellDefined": "XP_011509901.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 4572, "referenceAllele": "G", "start": 4571 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.4297G>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Gly1433Arg", "hgvsWellDefined": "XP_011509902.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 4691, "referenceAllele": "G", "start": 4690 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.4297G>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Gly1433Arg", "hgvsWellDefined": "XP_011509903.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "G", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.4297G>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Gly1433Arg", "hgvsWellDefined": "XP_011509904.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 4478, "referenceAllele": "G", "start": 4477 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.4294G>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Gly1432Arg", "hgvsWellDefined": "XP_011509905.1:p.Gly1432Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 4448, "referenceAllele": "G", "start": 4447 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.4264G>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Gly1422Arg", "hgvsWellDefined": "XP_011509906.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 4445, "referenceAllele": "G", "start": 4444 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.4261G>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Gly1421Arg", "hgvsWellDefined": "XP_011509907.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 4397, "referenceAllele": "G", "start": 4396 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.4213G>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Gly1405Arg", "hgvsWellDefined": "XP_011509908.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 4199, "referenceAllele": "G", "start": 4198 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.4015G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Gly1339Arg", "hgvsWellDefined": "XP_011509909.1:p.Gly1339Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 4545, "referenceAllele": "G", "start": 4544 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.4545G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA107608", "coordinates": [ { "allele": "A", "end": 4794, "referenceAllele": "G", "start": 4793 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001159435.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826013335", "coordinates": [ { "allele": "A", "end": 4623, "referenceAllele": "G", "start": 4622 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001159436.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259940", "coordinates": [ { "allele": "A", "end": 4608, "referenceAllele": "G", "start": 4607 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001189364.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827753582", "coordinates": [ { "allele": "A", "end": 4615, "referenceAllele": "G", "start": 4614 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001340877.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827760153", "coordinates": [ { "allele": "A", "end": 4483, "referenceAllele": "G", "start": 4482 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340878.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827766742", "coordinates": [ { "allele": "A", "end": 4575, "referenceAllele": "G", "start": 4574 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340879.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827771308", "coordinates": [ { "allele": "A", "end": 4582, "referenceAllele": "G", "start": 4581 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340880.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827774296", "coordinates": [ { "allele": "A", "end": 4674, "referenceAllele": "G", "start": 4673 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340881.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827777284", "coordinates": [ { "allele": "A", "end": 4671, "referenceAllele": "G", "start": 4670 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.4261G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Gly1421Arg", "hgvsWellDefined": "NP_001340883.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827780270", "coordinates": [ { "allele": "A", "end": 4579, "referenceAllele": "G", "start": 4578 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.4261G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Gly1421Arg", "hgvsWellDefined": "NP_001340884.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827783241", "coordinates": [ { "allele": "A", "end": 4531, "referenceAllele": "G", "start": 4530 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001340886.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827786203", "coordinates": [ { "allele": "A", "end": 4524, "referenceAllele": "G", "start": 4523 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001340887.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827789174", "coordinates": [ { "allele": "A", "end": 4620, "referenceAllele": "G", "start": 4619 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.4210G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Gly1404Arg", "hgvsWellDefined": "NP_001340889.1:p.Gly1404Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036789", "coordinates": [ { "allele": "A", "end": 4690, "referenceAllele": "G", "start": 4689 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Gly619Arg", "hgvsWellDefined": "NP_001340890.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA284957", "coordinates": [ { "allele": "A", "end": 4761, "referenceAllele": "G", "start": 4760 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gly1422Arg", "hgvsWellDefined": "NP_008851.3:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 4733, "referenceAllele": "G", "start": 4732 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.4733G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 4747, "referenceAllele": "G", "start": 4746 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.4747G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 4719, "referenceAllele": "G", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.4719G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA107608", "coordinates": [ { "allele": "A", "end": 4775, "referenceAllele": "G", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001159435.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826013335", "coordinates": [ { "allele": "A", "end": 4604, "referenceAllele": "G", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001159436.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259940", "coordinates": [ { "allele": "A", "end": 4553, "referenceAllele": "G", "start": 4552 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001189364.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827753582", "coordinates": [ { "allele": "A", "end": 4596, "referenceAllele": "G", "start": 4595 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001340877.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827760153", "coordinates": [ { "allele": "A", "end": 4428, "referenceAllele": "G", "start": 4427 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340878.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827766742", "coordinates": [ { "allele": "A", "end": 4520, "referenceAllele": "G", "start": 4519 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340879.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827771308", "coordinates": [ { "allele": "A", "end": 4563, "referenceAllele": "G", "start": 4562 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340880.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827774296", "coordinates": [ { "allele": "A", "end": 4655, "referenceAllele": "G", "start": 4654 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Gly1422Arg", "hgvsWellDefined": "NP_001340881.1:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827777284", "coordinates": [ { "allele": "A", "end": 4652, "referenceAllele": "G", "start": 4651 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.4261G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Gly1421Arg", "hgvsWellDefined": "NP_001340883.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827780270", "coordinates": [ { "allele": "A", "end": 4560, "referenceAllele": "G", "start": 4559 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.4261G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Gly1421Arg", "hgvsWellDefined": "NP_001340884.1:p.Gly1421Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827783241", "coordinates": [ { "allele": "A", "end": 4512, "referenceAllele": "G", "start": 4511 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001340886.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827786203", "coordinates": [ { "allele": "A", "end": 4469, "referenceAllele": "G", "start": 4468 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.4213G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Gly1405Arg", "hgvsWellDefined": "NP_001340887.1:p.Gly1405Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827789174", "coordinates": [ { "allele": "A", "end": 4601, "referenceAllele": "G", "start": 4600 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.4210G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Gly1404Arg", "hgvsWellDefined": "NP_001340889.1:p.Gly1404Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036789", "coordinates": [ { "allele": "A", "end": 4671, "referenceAllele": "G", "start": 4670 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.1855G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Gly619Arg", "hgvsWellDefined": "NP_001340890.1:p.Gly619Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA284957", "coordinates": [ { "allele": "A", "end": 4742, "referenceAllele": "G", "start": 4741 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.4264G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gly1422Arg", "hgvsWellDefined": "NP_008851.3:p.Gly1422Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 4714, "referenceAllele": "G", "start": 4713 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.4714G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA107608", "coordinates": [ { "allele": "A", "end": 4775, "referenceAllele": "G", "start": 4774 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.4297G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gly1433Arg", "hgvsWellDefined": "NP_001159435.1:p.Gly1433Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.4297G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.4297G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Gly1433Arg" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Gly1433Arg" } } } } ], "type": "nucleotide" }