SNP Links for Protein (Select 4809284) - SNP

Links from Protein

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Select item 14903970001.

rs1490397000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:613365 (GRCh38)
11:613365 (GRCh37)
Canonical SPDI:: NC_000011.10:613364:C:A
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.613365C>A, NC_000011.9:g.613365C>A, NG_029106.1:g.7635G>T, NM_001572.5:c.1078G>T, NM_001572.4:c.1078G>T, NM_001572.3:c.1078G>T, NM_004031.4:c.1117G>T, NM_004031.3:c.1117G>T, NM_004031.2:c.1117G>T, NM_004029.4:c.991G>T, NM_004029.3:c.991G>T, NM_004029.2:c.991G>T, NT_187586.1:g.143258C>A, XM_005252907.4:c.1114G>T, XM_005252907.3:c.1114G>T, XM_005252907.2:c.1114G>T, XM_005252907.1:c.1114G>T, XM_005252909.4:c.1030G>T, XM_005252909.3:c.1030G>T, XM_005252909.2:c.1030G>T, XM_005252909.1:c.1030G>T, XM_011520066.4:c.1075G>T, XM_011520066.3:c.1075G>T, XM_011520066.2:c.1075G>T, XM_011520066.1:c.1075G>T, NM_004030.1:c.*357G>T, XM_017017674.1:c.199G>T, NP_001563.2:p.Glu360Ter, NP_004022.2:p.Glu373Ter, NP_004020.1:p.Glu331Ter, XP_005252964.1:p.Glu372Ter, XP_005252966.1:p.Glu344Ter, XP_011518368.1:p.Glu359Ter, XP_016873163.1:p.Glu67Ter

Select item 14900262842.

rs1490026284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:614225 (GRCh38)
11:614225 (GRCh37)
Canonical SPDI:: NC_000011.10:614224:C:A,NC_000011.10:614224:C:T
Gene:: IRF7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
A=0.000071/2 (TOMMO)
HGVS:: NC_000011.10:g.614225C>A, NC_000011.10:g.614225C>T, NC_000011.9:g.614225C>A, NC_000011.9:g.614225C>T, NG_029106.1:g.6775G>T, NG_029106.1:g.6775G>A, NM_001572.5:c.628G>T, NM_001572.5:c.628G>A, NM_001572.4:c.628G>T, NM_001572.4:c.628G>A, NM_001572.3:c.628G>T, NM_001572.3:c.628G>A, NM_004031.4:c.667G>T, NM_004031.4:c.667G>A, NM_004031.3:c.667G>T, NM_004031.3:c.667G>A, NM_004031.2:c.667G>T, NM_004031.2:c.667G>A, NM_004029.4:c.628G>T, NM_004029.4:c.628G>A, NM_004029.3:c.628G>T, NM_004029.3:c.628G>A, NM_004029.2:c.628G>T, NM_004029.2:c.628G>A, NT_187586.1:g.144118C>A, NT_187586.1:g.144118C>T, XM_005252907.4:c.664G>T, XM_005252907.4:c.664G>A, XM_005252907.3:c.664G>T, XM_005252907.3:c.664G>A, XM_005252907.2:c.664G>T, XM_005252907.2:c.664G>A, XM_005252907.1:c.664G>T, XM_005252907.1:c.664G>A, XM_005252909.4:c.667G>T, XM_005252909.4:c.667G>A, XM_005252909.3:c.667G>T, XM_005252909.3:c.667G>A, XM_005252909.2:c.667G>T, XM_005252909.2:c.667G>A, XM_005252909.1:c.667G>T, XM_005252909.1:c.667G>A, XM_011520066.4:c.625G>T, XM_011520066.4:c.625G>A, XM_011520066.3:c.625G>T, XM_011520066.3:c.625G>A, XM_011520066.2:c.625G>T, XM_011520066.2:c.625G>A, XM_011520066.1:c.625G>T, XM_011520066.1:c.625G>A, NP_001563.2:p.Ala210Ser, NP_001563.2:p.Ala210Thr, NP_004022.2:p.Ala223Ser, NP_004022.2:p.Ala223Thr, NP_004020.1:p.Ala210Ser, NP_004020.1:p.Ala210Thr, XP_005252964.1:p.Ala222Ser, XP_005252964.1:p.Ala222Thr, XP_005252966.1:p.Ala223Ser, XP_005252966.1:p.Ala223Thr, XP_011518368.1:p.Ala209Ser, XP_011518368.1:p.Ala209Thr

Select item 14888713603.

rs1488871360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:614365 (GRCh38)
11:614365 (GRCh37)
Canonical SPDI:: NC_000011.10:614364:T:A
Gene:: IRF7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.614365T>A, NC_000011.9:g.614365T>A, NG_029106.1:g.6635A>T, NM_001572.5:c.488A>T, NM_001572.4:c.488A>T, NM_001572.3:c.488A>T, NM_004031.4:c.527A>T, NM_004031.3:c.527A>T, NM_004031.2:c.527A>T, NM_004029.4:c.488A>T, NM_004029.3:c.488A>T, NM_004029.2:c.488A>T, NT_187586.1:g.144258T>A, XM_005252907.4:c.524A>T, XM_005252907.3:c.524A>T, XM_005252907.2:c.524A>T, XM_005252907.1:c.524A>T, XM_005252909.4:c.527A>T, XM_005252909.3:c.527A>T, XM_005252909.2:c.527A>T, XM_005252909.1:c.527A>T, XM_011520066.4:c.485A>T, XM_011520066.3:c.485A>T, XM_011520066.2:c.485A>T, XM_011520066.1:c.485A>T, NP_001563.2:p.His163Leu, NP_004022.2:p.His176Leu, NP_004020.1:p.His163Leu, XP_005252964.1:p.His175Leu, XP_005252966.1:p.His176Leu, XP_011518368.1:p.His162Leu

Select item 14870533314.

rs1487053331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:615232 (GRCh38)
11:615232 (GRCh37)
Canonical SPDI:: NC_000011.10:615231:C:G,NC_000011.10:615231:C:T
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.615232C>G, NC_000011.10:g.615232C>T, NC_000011.9:g.615232C>G, NC_000011.9:g.615232C>T, NG_029106.1:g.5768G>C, NG_029106.1:g.5768G>A, NM_001572.5:c.48G>C, NM_001572.5:c.48G>A, NM_001572.4:c.48G>C, NM_001572.4:c.48G>A, NM_001572.3:c.48G>C, NM_001572.3:c.48G>A, NM_004031.4:c.87G>C, NM_004031.4:c.87G>A, NM_004031.3:c.87G>C, NM_004031.3:c.87G>A, NM_004031.2:c.87G>C, NM_004031.2:c.87G>A, NM_004029.4:c.48G>C, NM_004029.4:c.48G>A, NM_004029.3:c.48G>C, NM_004029.3:c.48G>A, NM_004029.2:c.48G>C, NM_004029.2:c.48G>A, NT_187586.1:g.145125C>G, NT_187586.1:g.145125C>T, XM_005252907.4:c.87G>C, XM_005252907.4:c.87G>A, XM_005252907.3:c.87G>C, XM_005252907.3:c.87G>A, XM_005252907.2:c.87G>C, XM_005252907.2:c.87G>A, XM_005252907.1:c.87G>C, XM_005252907.1:c.87G>A, XM_005252909.4:c.87G>C, XM_005252909.4:c.87G>A, XM_005252909.3:c.87G>C, XM_005252909.3:c.87G>A, XM_005252909.2:c.87G>C, XM_005252909.2:c.87G>A, XM_005252909.1:c.87G>C, XM_005252909.1:c.87G>A, XM_011520066.4:c.48G>C, XM_011520066.4:c.48G>A, XM_011520066.3:c.48G>C, XM_011520066.3:c.48G>A, XM_011520066.2:c.48G>C, XM_011520066.2:c.48G>A, XM_011520066.1:c.48G>C, XM_011520066.1:c.48G>A, NM_004030.1:c.48G>C, NM_004030.1:c.48G>A, NP_001563.2:p.Glu16Asp, NP_004022.2:p.Glu29Asp, NP_004020.1:p.Glu16Asp, XP_005252964.1:p.Glu29Asp, XP_005252966.1:p.Glu29Asp, XP_011518368.1:p.Glu16Asp

Select item 14870511175.

rs1487051117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:613527 (GRCh38)
11:613527 (GRCh37)
Canonical SPDI:: NC_000011.10:613526:C:G
Gene:: IRF7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.613527C>G, NC_000011.9:g.613527C>G, NG_029106.1:g.7473G>C, NM_001572.5:c.916G>C, NM_001572.4:c.916G>C, NM_001572.3:c.916G>C, NM_004031.4:c.955G>C, NM_004031.3:c.955G>C, NM_004031.2:c.955G>C, NM_004029.4:c.829G>C, NM_004029.3:c.829G>C, NM_004029.2:c.829G>C, NT_187586.1:g.143420C>G, XM_005252907.4:c.952G>C, XM_005252907.3:c.952G>C, XM_005252907.2:c.952G>C, XM_005252907.1:c.952G>C, XM_005252909.4:c.868G>C, XM_005252909.3:c.868G>C, XM_005252909.2:c.868G>C, XM_005252909.1:c.868G>C, XM_011520066.4:c.913G>C, XM_011520066.3:c.913G>C, XM_011520066.2:c.913G>C, XM_011520066.1:c.913G>C, NM_004030.1:c.*195G>C, XM_017017674.1:c.37G>C, NP_001563.2:p.Gly306Arg, NP_004022.2:p.Gly319Arg, NP_004020.1:p.Gly277Arg, XP_005252964.1:p.Gly318Arg, XP_005252966.1:p.Gly290Arg, XP_011518368.1:p.Gly305Arg, XP_016873163.1:p.Gly13Arg

Select item 14865526366.

rs1486552636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:612706 (GRCh38)
11:612706 (GRCh37)
Canonical SPDI:: NC_000011.10:612705:C:T
Gene:: IRF7 (Varview), PHRF1 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.612706C>T, NC_000011.9:g.612706C>T, NG_029106.1:g.8294G>A, NM_001572.5:c.1451G>A, NM_001572.4:c.1451G>A, NM_001572.3:c.1451G>A, NM_004031.4:c.1490G>A, NM_004031.3:c.1490G>A, NM_004031.2:c.1490G>A, NM_004029.4:c.1364G>A, NM_004029.3:c.1364G>A, NM_004029.2:c.1364G>A, NT_187586.1:g.142599C>T, XM_005252907.4:c.1487G>A, XM_005252907.3:c.1487G>A, XM_005252907.2:c.1487G>A, XM_005252907.1:c.1487G>A, XM_005252909.4:c.1403G>A, XM_005252909.3:c.1403G>A, XM_005252909.2:c.1403G>A, XM_005252909.1:c.1403G>A, XM_011520066.4:c.1448G>A, XM_011520066.3:c.1448G>A, XM_011520066.2:c.1448G>A, XM_011520066.1:c.1448G>A, NM_004030.1:c.*730G>A, XM_017017674.1:c.572G>A, NP_001563.2:p.Ser484Asn, NP_004022.2:p.Ser497Asn, NP_004020.1:p.Ser455Asn, XP_005252964.1:p.Ser496Asn, XP_005252966.1:p.Ser468Asn, XP_011518368.1:p.Ser483Asn, XP_016873163.1:p.Ser191Asn

Select item 14841662447.

rs1484166244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:613233 (GRCh38)
11:613233 (GRCh37)
Canonical SPDI:: NC_000011.10:613232:T:C
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.613233T>C, NC_000011.9:g.613233T>C, NG_029106.1:g.7767A>G, NM_001572.5:c.1210A>G, NM_001572.4:c.1210A>G, NM_001572.3:c.1210A>G, NM_004031.4:c.1249A>G, NM_004031.3:c.1249A>G, NM_004031.2:c.1249A>G, NM_004029.4:c.1123A>G, NM_004029.3:c.1123A>G, NM_004029.2:c.1123A>G, NT_187586.1:g.143126T>C, XM_005252907.4:c.1246A>G, XM_005252907.3:c.1246A>G, XM_005252907.2:c.1246A>G, XM_005252907.1:c.1246A>G, XM_005252909.4:c.1162A>G, XM_005252909.3:c.1162A>G, XM_005252909.2:c.1162A>G, XM_005252909.1:c.1162A>G, XM_011520066.4:c.1207A>G, XM_011520066.3:c.1207A>G, XM_011520066.2:c.1207A>G, XM_011520066.1:c.1207A>G, NM_004030.1:c.*489A>G, XM_017017674.1:c.331A>G, NP_001563.2:p.Ile404Val, NP_004022.2:p.Ile417Val, NP_004020.1:p.Ile375Val, XP_005252964.1:p.Ile416Val, XP_005252966.1:p.Ile388Val, XP_011518368.1:p.Ile403Val, XP_016873163.1:p.Ile111Val

Select item 14839102738.

rs1483910273 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:615175 (GRCh38)
11:615175 (GRCh37)
Canonical SPDI:: NC_000011.10:615174:C:A,NC_000011.10:615174:C:G
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.615175C>A, NC_000011.10:g.615175C>G, NC_000011.9:g.615175C>A, NC_000011.9:g.615175C>G, NG_029106.1:g.5825G>T, NG_029106.1:g.5825G>C, NM_001572.5:c.105G>T, NM_001572.5:c.105G>C, NM_001572.4:c.105G>T, NM_001572.4:c.105G>C, NM_001572.3:c.105G>T, NM_001572.3:c.105G>C, NM_004031.4:c.144G>T, NM_004031.4:c.144G>C, NM_004031.3:c.144G>T, NM_004031.3:c.144G>C, NM_004031.2:c.144G>T, NM_004031.2:c.144G>C, NM_004029.4:c.105G>T, NM_004029.4:c.105G>C, NM_004029.3:c.105G>T, NM_004029.3:c.105G>C, NM_004029.2:c.105G>T, NM_004029.2:c.105G>C, NT_187586.1:g.145068C>A, NT_187586.1:g.145068C>G, XM_005252907.4:c.144G>T, XM_005252907.4:c.144G>C, XM_005252907.3:c.144G>T, XM_005252907.3:c.144G>C, XM_005252907.2:c.144G>T, XM_005252907.2:c.144G>C, XM_005252907.1:c.144G>T, XM_005252907.1:c.144G>C, XM_005252909.4:c.144G>T, XM_005252909.4:c.144G>C, XM_005252909.3:c.144G>T, XM_005252909.3:c.144G>C, XM_005252909.2:c.144G>T, XM_005252909.2:c.144G>C, XM_005252909.1:c.144G>T, XM_005252909.1:c.144G>C, XM_011520066.4:c.105G>T, XM_011520066.4:c.105G>C, XM_011520066.3:c.105G>T, XM_011520066.3:c.105G>C, XM_011520066.2:c.105G>T, XM_011520066.2:c.105G>C, XM_011520066.1:c.105G>T, XM_011520066.1:c.105G>C, NM_004030.1:c.105G>T, NM_004030.1:c.105G>C, NP_001563.2:p.Glu35Asp, NP_001563.2:p.Glu35Asp, NP_004022.2:p.Glu48Asp, NP_004022.2:p.Glu48Asp, NP_004020.1:p.Glu35Asp, NP_004020.1:p.Glu35Asp, XP_005252964.1:p.Glu48Asp, XP_005252964.1:p.Glu48Asp, XP_005252966.1:p.Glu48Asp, XP_005252966.1:p.Glu48Asp, XP_011518368.1:p.Glu35Asp, XP_011518368.1:p.Glu35Asp

Select item 14838354039.

rs1483835403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:613413 (GRCh38)
11:613413 (GRCh37)
Canonical SPDI:: NC_000011.10:613412:G:A
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.613413G>A, NC_000011.9:g.613413G>A, NG_029106.1:g.7587C>T, NM_001572.5:c.1030C>T, NM_001572.4:c.1030C>T, NM_001572.3:c.1030C>T, NM_004031.4:c.1069C>T, NM_004031.3:c.1069C>T, NM_004031.2:c.1069C>T, NM_004029.4:c.943C>T, NM_004029.3:c.943C>T, NM_004029.2:c.943C>T, NT_187586.1:g.143306G>A, XM_005252907.4:c.1066C>T, XM_005252907.3:c.1066C>T, XM_005252907.2:c.1066C>T, XM_005252907.1:c.1066C>T, XM_005252909.4:c.982C>T, XM_005252909.3:c.982C>T, XM_005252909.2:c.982C>T, XM_005252909.1:c.982C>T, XM_011520066.4:c.1027C>T, XM_011520066.3:c.1027C>T, XM_011520066.2:c.1027C>T, XM_011520066.1:c.1027C>T, XM_017017674.1:c.151C>T, NM_004030.1:c.*309C>T, NP_001563.2:p.Arg344Cys, NP_004022.2:p.Arg357Cys, NP_004020.1:p.Arg315Cys, XP_005252964.1:p.Arg356Cys, XP_005252966.1:p.Arg328Cys, XP_011518368.1:p.Arg343Cys, XP_016873163.1:p.Arg51Cys

Select item 148232828010.

rs1482328280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:613468 (GRCh38)
11:613468 (GRCh37)
Canonical SPDI:: NC_000011.10:613467:G:A
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.613468G>A, NC_000011.9:g.613468G>A, NG_029106.1:g.7532C>T, NM_001572.5:c.975C>T, NM_001572.4:c.975C>T, NM_001572.3:c.975C>T, NM_004031.4:c.1014C>T, NM_004031.3:c.1014C>T, NM_004031.2:c.1014C>T, NM_004029.4:c.888C>T, NM_004029.3:c.888C>T, NM_004029.2:c.888C>T, NT_187586.1:g.143361G>A, XM_005252907.4:c.1011C>T, XM_005252907.3:c.1011C>T, XM_005252907.2:c.1011C>T, XM_005252907.1:c.1011C>T, XM_005252909.4:c.927C>T, XM_005252909.3:c.927C>T, XM_005252909.2:c.927C>T, XM_005252909.1:c.927C>T, XM_011520066.4:c.972C>T, XM_011520066.3:c.972C>T, XM_011520066.2:c.972C>T, XM_011520066.1:c.972C>T, NM_004030.1:c.*254C>T, XM_017017674.1:c.96C>T

Select item 148203964911.

rs1482039649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:614374 (GRCh38)
11:614374 (GRCh37)
Canonical SPDI:: NC_000011.10:614373:G:A
Gene:: IRF7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.614374G>A, NC_000011.9:g.614374G>A, NG_029106.1:g.6626C>T, NM_001572.5:c.479C>T, NM_001572.4:c.479C>T, NM_001572.3:c.479C>T, NM_004031.4:c.518C>T, NM_004031.3:c.518C>T, NM_004031.2:c.518C>T, NM_004029.4:c.479C>T, NM_004029.3:c.479C>T, NM_004029.2:c.479C>T, NT_187586.1:g.144267G>A, XM_005252907.4:c.515C>T, XM_005252907.3:c.515C>T, XM_005252907.2:c.515C>T, XM_005252907.1:c.515C>T, XM_005252909.4:c.518C>T, XM_005252909.3:c.518C>T, XM_005252909.2:c.518C>T, XM_005252909.1:c.518C>T, XM_011520066.4:c.476C>T, XM_011520066.3:c.476C>T, XM_011520066.2:c.476C>T, XM_011520066.1:c.476C>T, NP_001563.2:p.Ala160Val, NP_004022.2:p.Ala173Val, NP_004020.1:p.Ala160Val, XP_005252964.1:p.Ala172Val, XP_005252966.1:p.Ala173Val, XP_011518368.1:p.Ala159Val

Select item 148050350612.

rs1480503506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:613827 (GRCh38)
11:613827 (GRCh37)
Canonical SPDI:: NC_000011.10:613826:G:A,NC_000011.10:613826:G:T
Gene:: IRF7 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.613827G>A, NC_000011.10:g.613827G>T, NC_000011.9:g.613827G>A, NC_000011.9:g.613827G>T, NG_029106.1:g.7173C>T, NG_029106.1:g.7173C>A, NM_001572.5:c.805C>T, NM_001572.5:c.805C>A, NM_001572.4:c.805C>T, NM_001572.4:c.805C>A, NM_001572.3:c.805C>T, NM_001572.3:c.805C>A, NM_004031.4:c.844C>T, NM_004031.4:c.844C>A, NM_004031.3:c.844C>T, NM_004031.3:c.844C>A, NM_004031.2:c.844C>T, NM_004031.2:c.844C>A, NM_004029.4:c.718C>T, NM_004029.4:c.718C>A, NM_004029.3:c.718C>T, NM_004029.3:c.718C>A, NM_004029.2:c.718C>T, NM_004029.2:c.718C>A, NT_187586.1:g.143720G>A, NT_187586.1:g.143720G>T, XM_005252907.4:c.841C>T, XM_005252907.4:c.841C>A, XM_005252907.3:c.841C>T, XM_005252907.3:c.841C>A, XM_005252907.2:c.841C>T, XM_005252907.2:c.841C>A, XM_005252907.1:c.841C>T, XM_005252907.1:c.841C>A, XM_005252909.4:c.757C>T, XM_005252909.4:c.757C>A, XM_005252909.3:c.757C>T, XM_005252909.3:c.757C>A, XM_005252909.2:c.757C>T, XM_005252909.2:c.757C>A, XM_005252909.1:c.757C>T, XM_005252909.1:c.757C>A, XM_011520066.4:c.802C>T, XM_011520066.4:c.802C>A, XM_011520066.3:c.802C>T, XM_011520066.3:c.802C>A, XM_011520066.2:c.802C>T, XM_011520066.2:c.802C>A, XM_011520066.1:c.802C>T, XM_011520066.1:c.802C>A, XM_017017674.1:c.-75C>T, XM_017017674.1:c.-75C>A, NM_004030.1:c.*84C>T, NM_004030.1:c.*84C>A, NP_001563.2:p.Pro269Ser, NP_001563.2:p.Pro269Thr, NP_004022.2:p.Pro282Ser, NP_004022.2:p.Pro282Thr, NP_004020.1:p.Pro240Ser, NP_004020.1:p.Pro240Thr, XP_005252964.1:p.Pro281Ser, XP_005252964.1:p.Pro281Thr, XP_005252966.1:p.Pro253Ser, XP_005252966.1:p.Pro253Thr, XP_011518368.1:p.Pro268Ser, XP_011518368.1:p.Pro268Thr

Select item 148027903813.

rs1480279038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:614505 (GRCh38)
11:614505 (GRCh37)
Canonical SPDI:: NC_000011.10:614504:C:T
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000011.10:g.614505C>T, NC_000011.9:g.614505C>T, NG_029106.1:g.6495G>A, NM_001572.5:c.424G>A, NM_001572.4:c.424G>A, NM_001572.3:c.424G>A, NM_004031.4:c.463G>A, NM_004031.3:c.463G>A, NM_004031.2:c.463G>A, NM_004029.4:c.424G>A, NM_004029.3:c.424G>A, NM_004029.2:c.424G>A, NT_187586.1:g.144398C>T, XM_005252907.4:c.460G>A, XM_005252907.3:c.460G>A, XM_005252907.2:c.460G>A, XM_005252907.1:c.460G>A, XM_005252909.4:c.463G>A, XM_005252909.3:c.463G>A, XM_005252909.2:c.463G>A, XM_005252909.1:c.463G>A, XM_011520066.4:c.421G>A, XM_011520066.3:c.421G>A, XM_011520066.2:c.421G>A, XM_011520066.1:c.421G>A, NM_004030.1:c.424G>A, NP_001563.2:p.Glu142Lys, NP_004022.2:p.Glu155Lys, NP_004020.1:p.Glu142Lys, XP_005252964.1:p.Glu154Lys, XP_005252966.1:p.Glu155Lys, XP_011518368.1:p.Glu141Lys

Select item 147917343014.

rs1479173430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:614863 (GRCh38)
11:614863 (GRCh37)
Canonical SPDI:: NC_000011.10:614862:C:T
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.614863C>T, NC_000011.9:g.614863C>T, NG_029106.1:g.6137G>A, NM_001572.5:c.328G>A, NM_001572.4:c.328G>A, NM_001572.3:c.328G>A, NM_004031.4:c.367G>A, NM_004031.3:c.367G>A, NM_004031.2:c.367G>A, NM_004029.4:c.328G>A, NM_004029.3:c.328G>A, NM_004029.2:c.328G>A, NT_187586.1:g.144756C>T, XM_005252907.4:c.367G>A, XM_005252907.3:c.367G>A, XM_005252907.2:c.367G>A, XM_005252907.1:c.367G>A, XM_005252909.4:c.367G>A, XM_005252909.3:c.367G>A, XM_005252909.2:c.367G>A, XM_005252909.1:c.367G>A, XM_011520066.4:c.328G>A, XM_011520066.3:c.328G>A, XM_011520066.2:c.328G>A, XM_011520066.1:c.328G>A, NM_004030.1:c.328G>A, NP_001563.2:p.Asp110Asn, NP_004022.2:p.Asp123Asn, NP_004020.1:p.Asp110Asn, XP_005252964.1:p.Asp123Asn, XP_005252966.1:p.Asp123Asn, XP_011518368.1:p.Asp110Asn

Select item 147875063515.

rs1478750635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:614990 (GRCh38)
11:614990 (GRCh37)
Canonical SPDI:: NC_000011.10:614989:G:C,NC_000011.10:614989:G:T
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.614990G>C, NC_000011.10:g.614990G>T, NC_000011.9:g.614990G>C, NC_000011.9:g.614990G>T, NG_029106.1:g.6010C>G, NG_029106.1:g.6010C>A, NM_001572.5:c.201C>G, NM_001572.5:c.201C>A, NM_001572.4:c.201C>G, NM_001572.4:c.201C>A, NM_001572.3:c.201C>G, NM_001572.3:c.201C>A, NM_004031.4:c.240C>G, NM_004031.4:c.240C>A, NM_004031.3:c.240C>G, NM_004031.3:c.240C>A, NM_004031.2:c.240C>G, NM_004031.2:c.240C>A, NM_004029.4:c.201C>G, NM_004029.4:c.201C>A, NM_004029.3:c.201C>G, NM_004029.3:c.201C>A, NM_004029.2:c.201C>G, NM_004029.2:c.201C>A, NT_187586.1:g.144883G>C, NT_187586.1:g.144883G>T, XM_005252907.4:c.240C>G, XM_005252907.4:c.240C>A, XM_005252907.3:c.240C>G, XM_005252907.3:c.240C>A, XM_005252907.2:c.240C>G, XM_005252907.2:c.240C>A, XM_005252907.1:c.240C>G, XM_005252907.1:c.240C>A, XM_005252909.4:c.240C>G, XM_005252909.4:c.240C>A, XM_005252909.3:c.240C>G, XM_005252909.3:c.240C>A, XM_005252909.2:c.240C>G, XM_005252909.2:c.240C>A, XM_005252909.1:c.240C>G, XM_005252909.1:c.240C>A, XM_011520066.4:c.201C>G, XM_011520066.4:c.201C>A, XM_011520066.3:c.201C>G, XM_011520066.3:c.201C>A, XM_011520066.2:c.201C>G, XM_011520066.2:c.201C>A, XM_011520066.1:c.201C>G, XM_011520066.1:c.201C>A, NM_004030.1:c.201C>G, NM_004030.1:c.201C>A

Select item 147661282316.

rs1476612823 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:612702 (GRCh38)
11:612702 (GRCh37)
Canonical SPDI:: NC_000011.10:612701:G:A
Gene:: IRF7 (Varview), PHRF1 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.612702G>A, NC_000011.9:g.612702G>A, NG_029106.1:g.8298C>T, NM_001572.5:c.1455C>T, NM_001572.4:c.1455C>T, NM_001572.3:c.1455C>T, NM_004031.4:c.1494C>T, NM_004031.3:c.1494C>T, NM_004031.2:c.1494C>T, NM_004029.4:c.1368C>T, NM_004029.3:c.1368C>T, NM_004029.2:c.1368C>T, NT_187586.1:g.142595G>A, XM_005252907.4:c.1491C>T, XM_005252907.3:c.1491C>T, XM_005252907.2:c.1491C>T, XM_005252907.1:c.1491C>T, XM_005252909.4:c.1407C>T, XM_005252909.3:c.1407C>T, XM_005252909.2:c.1407C>T, XM_005252909.1:c.1407C>T, XM_011520066.4:c.1452C>T, XM_011520066.3:c.1452C>T, XM_011520066.2:c.1452C>T, XM_011520066.1:c.1452C>T, NM_004030.1:c.*734C>T, XM_017017674.1:c.576C>T

Select item 147592239517.

rs1475922395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:615241 (GRCh38)
11:615241 (GRCh37)
Canonical SPDI:: NC_000011.10:615240:C:T
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.615241C>T, NC_000011.9:g.615241C>T, NG_029106.1:g.5759G>A, NM_001572.5:c.39G>A, NM_001572.4:c.39G>A, NM_001572.3:c.39G>A, NM_004031.4:c.78G>A, NM_004031.3:c.78G>A, NM_004031.2:c.78G>A, NM_004029.4:c.39G>A, NM_004029.3:c.39G>A, NM_004029.2:c.39G>A, NT_187586.1:g.145134C>T, XM_005252907.4:c.78G>A, XM_005252907.3:c.78G>A, XM_005252907.2:c.78G>A, XM_005252907.1:c.78G>A, XM_005252909.4:c.78G>A, XM_005252909.3:c.78G>A, XM_005252909.2:c.78G>A, XM_005252909.1:c.78G>A, XM_011520066.4:c.39G>A, XM_011520066.3:c.39G>A, XM_011520066.2:c.39G>A, XM_011520066.1:c.39G>A, NM_004030.1:c.39G>A

Select item 147529556418.

rs1475295564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>- [Show Flanks]
Chromosome:: 11:615204 (GRCh38)
11:615204 (GRCh37)
Canonical SPDI:: NC_000011.10:615200:AGCAGC:AGC
Gene:: IRF7 (Varview)
Functional Consequence:: inframe_deletion,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAGC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.615201AGC[1], NC_000011.9:g.615201AGC[1], NG_029106.1:g.5794GCT[1], NM_001572.5:c.74GCT[1], NM_001572.4:c.74GCT[1], NM_001572.3:c.74GCT[1], NM_004031.4:c.113GCT[1], NM_004031.3:c.113GCT[1], NM_004031.2:c.113GCT[1], NM_004029.4:c.74GCT[1], NM_004029.3:c.74GCT[1], NM_004029.2:c.74GCT[1], NT_187586.1:g.145094AGC[1], XM_005252907.4:c.113GCT[1], XM_005252907.3:c.113GCT[1], XM_005252907.2:c.113GCT[1], XM_005252907.1:c.113GCT[1], XM_005252909.4:c.113GCT[1], XM_005252909.3:c.113GCT[1], XM_005252909.2:c.113GCT[1], XM_005252909.1:c.113GCT[1], XM_011520066.4:c.74GCT[1], XM_011520066.3:c.74GCT[1], XM_011520066.2:c.74GCT[1], XM_011520066.1:c.74GCT[1], NM_004030.1:c.74GCT[1], NP_001563.2:p.Cys26del, NP_004022.2:p.Cys39del, NP_004020.1:p.Cys26del, XP_005252964.1:p.Cys39del, XP_005252966.1:p.Cys39del, XP_011518368.1:p.Cys26del

Select item 147337546219.

rs1473375462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:612778 (GRCh38)
11:612778 (GRCh37)
Canonical SPDI:: NC_000011.10:612777:A:C
Gene:: IRF7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.612778A>C, NC_000011.9:g.612778A>C, NG_029106.1:g.8222T>G, NM_001572.5:c.1379T>G, NM_001572.4:c.1379T>G, NM_001572.3:c.1379T>G, NM_004031.4:c.1418T>G, NM_004031.3:c.1418T>G, NM_004031.2:c.1418T>G, NM_004029.4:c.1292T>G, NM_004029.3:c.1292T>G, NM_004029.2:c.1292T>G, NT_187586.1:g.142671A>C, XM_005252907.4:c.1415T>G, XM_005252907.3:c.1415T>G, XM_005252907.2:c.1415T>G, XM_005252907.1:c.1415T>G, XM_005252909.4:c.1331T>G, XM_005252909.3:c.1331T>G, XM_005252909.2:c.1331T>G, XM_005252909.1:c.1331T>G, XM_011520066.4:c.1376T>G, XM_011520066.3:c.1376T>G, XM_011520066.2:c.1376T>G, XM_011520066.1:c.1376T>G, NM_004030.1:c.*658T>G, XM_017017674.1:c.500T>G, NP_001563.2:p.Val460Gly, NP_004022.2:p.Val473Gly, NP_004020.1:p.Val431Gly, XP_005252964.1:p.Val472Gly, XP_005252966.1:p.Val444Gly, XP_011518368.1:p.Val459Gly, XP_016873163.1:p.Val167Gly

Select item 147321291720.

rs1473212917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:614904 (GRCh38)
11:614904 (GRCh37)
Canonical SPDI:: NC_000011.10:614903:C:G
Gene:: IRF7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.614904C>G, NC_000011.9:g.614904C>G, NG_029106.1:g.6096G>C, NM_001572.5:c.287G>C, NM_001572.4:c.287G>C, NM_001572.3:c.287G>C, NM_004031.4:c.326G>C, NM_004031.3:c.326G>C, NM_004031.2:c.326G>C, NM_004029.4:c.287G>C, NM_004029.3:c.287G>C, NM_004029.2:c.287G>C, NT_187586.1:g.144797C>G, XM_005252907.4:c.326G>C, XM_005252907.3:c.326G>C, XM_005252907.2:c.326G>C, XM_005252907.1:c.326G>C, XM_005252909.4:c.326G>C, XM_005252909.3:c.326G>C, XM_005252909.2:c.326G>C, XM_005252909.1:c.326G>C, XM_011520066.4:c.287G>C, XM_011520066.3:c.287G>C, XM_011520066.2:c.287G>C, XM_011520066.1:c.287G>C, NM_004030.1:c.287G>C, NP_001563.2:p.Arg96Pro, NP_004022.2:p.Arg109Pro, NP_004020.1:p.Arg96Pro, XP_005252964.1:p.Arg109Pro, XP_005252966.1:p.Arg109Pro, XP_011518368.1:p.Arg96Pro

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