{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA357876004", "communityStandardTitle": [ "NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1037434[alleleid]", "alleleId": 1037434, "preferredName": "NM_001963.6(EGF):c.3586G>A (p.Ala1196Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1049773", "RCV": [ "RCV001356311" ], "variationId": 1049773 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.110932573G>A?assembly=hg19", "id": "chr4:g.110932573G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.110011417G>A?assembly=hg38", "id": "chr4:g.110011417G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2126206950", "rs": 2126206950 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-110011417-G-A?dataset=gnomad_r4", "id": "4-110011417-G-A", "variant": "4:110011417 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 110011417, "referenceAllele": "G", "start": 110011416 } ], "hgvs": [ "NC_000004.12:g.110011417G>A", "CM000666.2:g.110011417G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 110932573, "referenceAllele": "G", "start": 110932572 } ], "hgvs": [ "NC_000004.11:g.110932573G>A", "CM000666.1:g.110932573G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 111152022, "referenceAllele": "G", "start": 111152021 } ], "hgvs": [ "NC_000004.10:g.111152022G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 103534, "referenceAllele": "G", "start": 103533 } ], "hgvs": [ "NG_011441.1:g.103534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001719" }, { "coordinates": [ { "allele": "A", "end": 103534, "referenceAllele": "G", "start": 103533 } ], "hgvs": [ "NG_011441.2:g.103534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673537" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000265171.10:c.3586G>A" ], "proteinEffect": { "hgvs": "ENSP00000265171.5:p.Ala1196Thr", "hgvsWellDefined": "ENSP00000265171.5:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS742801", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265171.10:c.3586G>A" }, "RefSeq": { "hgvs": "NM_001963.6:c.3586G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265171.5:p.Ala1196Thr" }, "RefSeq": { "hgvs": "NP_001954.2:p.Ala1196Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "G", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000652245.1:c.*105G>A" ], "proteinEffect": { "hgvs": "ENSP00000498337.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772099" }, { "coordinates": [ { "allele": "A", "end": 4031, "referenceAllele": "G", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000265171.9:c.3586G>A" ], "proteinEffect": { "hgvs": "ENSP00000265171.5:p.Ala1196Thr", "hgvsWellDefined": "ENSP00000265171.5:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS251689" }, { "coordinates": [ { "allele": "A", "end": 3558, "referenceAllele": "G", "start": 3557 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000503392.1:c.3463G>A" ], "proteinEffect": { "hgvs": "ENSP00000421384.1:p.Ala1155Thr", "hgvsWellDefined": "ENSP00000421384.1:p.Ala1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS335715" }, { "coordinates": [ { "allele": "A", "end": 3912, "referenceAllele": "G", "start": 3911 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000509793.5:c.3460G>A" ], "proteinEffect": { "hgvs": "ENSP00000424316.1:p.Ala1154Thr", "hgvsWellDefined": "ENSP00000424316.1:p.Ala1154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS340481" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000509996.1:n.1192G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340626" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000537316.5:n.417G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS360710" }, { "coordinates": [ { "allele": "A", "end": 229, "endIntronDirection": "+", "endIntronOffset": 109, "referenceAllele": "G", "start": 229, "startIntronDirection": "+", "startIntronOffset": 108 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000540840.1:n.229+109G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS362620" }, { "coordinates": [ { "allele": "A", "end": 592, "referenceAllele": "G", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "ENST00000544918.1:n.592G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS364827" }, { "@id": "http://reg.genome.network/allele/PA2826140351", "coordinates": [ { "allele": "A", "end": 3915, "referenceAllele": "G", "start": 3914 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178130.1:c.3463G>A" ], "proteinEffect": { "hgvs": "NP_001171601.1:p.Ala1155Thr", "hgvsWellDefined": "NP_001171601.1:p.Ala1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS015888" }, { "@id": "http://reg.genome.network/allele/PA2826140599", "coordinates": [ { "allele": "A", "end": 3912, "referenceAllele": "G", "start": 3911 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178131.1:c.3460G>A" ], "proteinEffect": { "hgvs": "NP_001171602.1:p.Ala1154Thr", "hgvsWellDefined": "NP_001171602.1:p.Ala1154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS015889" }, { "@id": "http://reg.genome.network/allele/PA2499259902", "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "G", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001963.4:c.3586G>A" ], "proteinEffect": { "hgvs": "NP_001954.2:p.Ala1196Thr", "hgvsWellDefined": "NP_001954.2:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS027289" }, { "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_005262796.2:c.3610G>A" ], "proteinEffect": { "hgvs": "XP_005262853.1:p.Ala1204Thr", "hgvsWellDefined": "XP_005262853.1:p.Ala1204Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS063568" }, { "coordinates": [ { "allele": "A", "end": 3937, "referenceAllele": "G", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_005262797.2:c.3484G>A" ], "proteinEffect": { "hgvs": "XP_005262854.1:p.Ala1162Thr", "hgvsWellDefined": "XP_005262854.1:p.Ala1162Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS063569" }, { "coordinates": [ { "allele": "A", "end": 3820, "referenceAllele": "G", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_005262798.2:c.3367G>A" ], "proteinEffect": { "hgvs": "XP_005262855.1:p.Ala1123Thr", "hgvsWellDefined": "XP_005262855.1:p.Ala1123Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS063570" }, { "coordinates": [ { "allele": "A", "end": 3717, "referenceAllele": "G", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_005262800.2:c.*105G>A" ], "proteinEffect": { "hgvs": "XP_005262857.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063571" }, { "coordinates": [ { "allele": "A", "end": 3160, "referenceAllele": "G", "start": 3159 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_005262801.2:c.2707G>A" ], "proteinEffect": { "hgvs": "XP_005262858.1:p.Ala903Thr", "hgvsWellDefined": "XP_005262858.1:p.Ala903Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS063572" }, { "coordinates": [ { "allele": "A", "end": 3960, "referenceAllele": "G", "start": 3959 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_006714124.2:c.*105G>A" ], "proteinEffect": { "hgvs": "XP_006714187.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070509" }, { "coordinates": [ { "allele": "A", "end": 3712, "referenceAllele": "G", "start": 3711 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_011531707.1:c.3499G>A" ], "proteinEffect": { "hgvs": "XP_011530009.1:p.Ala1167Thr", "hgvsWellDefined": "XP_011530009.1:p.Ala1167Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS098739" }, { "@id": "http://reg.genome.network/allele/PA2826140351", "coordinates": [ { "allele": "A", "end": 3915, "referenceAllele": "G", "start": 3914 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178130.2:c.3463G>A" ], "proteinEffect": { "hgvs": "NP_001171601.1:p.Ala1155Thr", "hgvsWellDefined": "NP_001171601.1:p.Ala1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511750" }, { "@id": "http://reg.genome.network/allele/PA2826140599", "coordinates": [ { "allele": "A", "end": 3912, "referenceAllele": "G", "start": 3911 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178131.2:c.3460G>A" ], "proteinEffect": { "hgvs": "NP_001171602.1:p.Ala1154Thr", "hgvsWellDefined": "NP_001171602.1:p.Ala1154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511751" }, { "coordinates": [ { "allele": "A", "end": 3590, "referenceAllele": "G", "start": 3589 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001357021.1:c.*105G>A" ], "proteinEffect": { "hgvs": "NP_001343950.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522930" }, { "@id": "http://reg.genome.network/allele/PA2499259902", "coordinates": [ { "allele": "A", "end": 4038, "referenceAllele": "G", "start": 4037 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001963.5:c.3586G>A" ], "proteinEffect": { "hgvs": "NP_001954.2:p.Ala1196Thr", "hgvsWellDefined": "NP_001954.2:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS524937" }, { "coordinates": [ { "allele": "A", "end": 4087, "referenceAllele": "G", "start": 4086 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007845.1:c.3634G>A" ], "proteinEffect": { "hgvs": "XP_016863334.1:p.Ala1212Thr", "hgvsWellDefined": "XP_016863334.1:p.Ala1212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562502" }, { "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007846.1:c.3610G>A" ], "proteinEffect": { "hgvs": "XP_016863335.1:p.Ala1204Thr", "hgvsWellDefined": "XP_016863335.1:p.Ala1204Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562503" }, { "coordinates": [ { "allele": "A", "end": 3964, "referenceAllele": "G", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007847.1:c.3511G>A" ], "proteinEffect": { "hgvs": "XP_016863336.1:p.Ala1171Thr", "hgvsWellDefined": "XP_016863336.1:p.Ala1171Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562504" }, { "coordinates": [ { "allele": "A", "end": 3961, "referenceAllele": "G", "start": 3960 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007848.1:c.3508G>A" ], "proteinEffect": { "hgvs": "XP_016863337.1:p.Ala1170Thr", "hgvsWellDefined": "XP_016863337.1:p.Ala1170Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562505" }, { "coordinates": [ { "allele": "A", "end": 3844, "referenceAllele": "G", "start": 3843 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007849.1:c.3391G>A" ], "proteinEffect": { "hgvs": "XP_016863338.1:p.Ala1131Thr", "hgvsWellDefined": "XP_016863338.1:p.Ala1131Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562506" }, { "coordinates": [ { "allele": "A", "end": 3984, "referenceAllele": "G", "start": 3983 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007850.1:c.*105G>A" ], "proteinEffect": { "hgvs": "XP_016863339.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562507" }, { "coordinates": [ { "allele": "A", "end": 3741, "referenceAllele": "G", "start": 3740 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "XM_017007851.1:c.*105G>A" ], "proteinEffect": { "hgvs": "XP_016863340.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562508" }, { "@id": "http://reg.genome.network/allele/PA2826140351", "coordinates": [ { "allele": "A", "end": 3916, "referenceAllele": "G", "start": 3915 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178130.3:c.3463G>A" ], "proteinEffect": { "hgvs": "NP_001171601.1:p.Ala1155Thr", "hgvsWellDefined": "NP_001171601.1:p.Ala1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS678954" }, { "@id": "http://reg.genome.network/allele/PA2826140599", "coordinates": [ { "allele": "A", "end": 3913, "referenceAllele": "G", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001178131.3:c.3460G>A" ], "proteinEffect": { "hgvs": "NP_001171602.1:p.Ala1154Thr", "hgvsWellDefined": "NP_001171602.1:p.Ala1154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS678955" }, { "coordinates": [ { "allele": "A", "end": 3591, "referenceAllele": "G", "start": 3590 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001357021.2:c.*105G>A" ], "proteinEffect": { "hgvs": "NP_001343950.1:n.*105G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690460" }, { "@id": "http://reg.genome.network/allele/PA2499259902", "coordinates": [ { "allele": "A", "end": 4039, "referenceAllele": "G", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN003229", "geneNCBI_id": 1950, "geneSymbol": "EGF", "hgvs": [ "NM_001963.6:c.3586G>A" ], "proteinEffect": { "hgvs": "NP_001954.2:p.Ala1196Thr", "hgvsWellDefined": "NP_001954.2:p.Ala1196Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS695412", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265171.10:c.3586G>A" }, "RefSeq": { "hgvs": "NM_001963.6:c.3586G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265171.5:p.Ala1196Thr" }, "RefSeq": { "hgvs": "NP_001954.2:p.Ala1196Thr" } } } } ], "type": "nucleotide" }