SNP Links for Protein (Select 8922712) - SNP

Select item 14891975131.

rs1489197513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:77014993 (GRCh38)
4:77936146 (GRCh37)
Canonical SPDI:: NC_000004.12:77014992:G:A
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77014993G>A, NC_000004.11:g.77936146G>A, NM_018243.4:c.663G>A, NM_018243.3:c.663G>A, NM_018243.2:c.663G>A, XR_001741734.2:n.6851C>T, NM_001306147.2:c.693G>A, NM_001306147.1:c.693G>A, XM_017008401.2:c.693G>A, XM_017008401.1:c.693G>A, XM_017008403.2:c.663G>A, XM_017008403.1:c.663G>A, XM_017008402.2:c.693G>A, XM_017008402.1:c.693G>A, XM_017008404.2:c.663G>A, XM_017008404.1:c.663G>A, XM_047415960.1:c.639G>A, XM_047415959.1:c.693G>A

Select item 14890985912.

rs1489098591 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:77011860 (GRCh38)
4:77933013 (GRCh37)
Canonical SPDI:: NC_000004.12:77011859:C:G
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77011860C>G, NC_000004.11:g.77933013C>G, NM_018243.4:c.464C>G, NM_018243.3:c.464C>G, NM_018243.2:c.464C>G, NM_001306147.2:c.494C>G, NM_001306147.1:c.494C>G, XM_017008401.2:c.494C>G, XM_017008401.1:c.494C>G, XM_017008403.2:c.464C>G, XM_017008403.1:c.464C>G, XM_017008402.2:c.494C>G, XM_017008402.1:c.494C>G, XM_017008404.2:c.464C>G, XM_017008404.1:c.464C>G, XM_047415960.1:c.440C>G, XM_047415959.1:c.494C>G, NP_060713.1:p.Ala155Gly, NP_001293076.1:p.Ala165Gly, XP_016863890.1:p.Ala165Gly, XP_016863892.1:p.Ala155Gly, XP_016863891.1:p.Ala165Gly, XP_016863893.1:p.Ala155Gly, XP_047271916.1:p.Ala147Gly, XP_047271915.1:p.Ala165Gly

Select item 14878685363.

rs1487868536 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:77005739 (GRCh38)
4:77926892 (GRCh37)
Canonical SPDI:: NC_000004.12:77005738:T:C
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77005739T>C, NC_000004.11:g.77926892T>C, NM_018243.4:c.281T>C, NM_018243.3:c.281T>C, NM_018243.2:c.281T>C, NM_001306147.2:c.311T>C, NM_001306147.1:c.311T>C, XM_017008401.2:c.311T>C, XM_017008401.1:c.311T>C, XM_017008403.2:c.281T>C, XM_017008403.1:c.281T>C, XM_017008402.2:c.311T>C, XM_017008402.1:c.311T>C, XM_017008404.2:c.281T>C, XM_017008404.1:c.281T>C, XM_047415960.1:c.257T>C, XM_047415959.1:c.311T>C, NP_060713.1:p.Leu94Pro, NP_001293076.1:p.Leu104Pro, XP_016863890.1:p.Leu104Pro, XP_016863892.1:p.Leu94Pro, XP_016863891.1:p.Leu104Pro, XP_016863893.1:p.Leu94Pro, XP_047271916.1:p.Leu86Pro, XP_047271915.1:p.Leu104Pro

Select item 14755021084.

rs1475502108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:77028735 (GRCh38)
4:77949888 (GRCh37)
Canonical SPDI:: NC_000004.12:77028734:G:A
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77028735G>A, NC_000004.11:g.77949888G>A, NM_018243.4:c.1060G>A, NM_018243.3:c.1060G>A, NM_018243.2:c.1060G>A, NM_001306147.2:c.1090G>A, NM_001306147.1:c.1090G>A, XM_017008401.2:c.1090G>A, XM_017008401.1:c.1090G>A, XM_017008403.2:c.1060G>A, XM_017008403.1:c.1060G>A, XM_017008402.2:c.1090G>A, XM_017008402.1:c.1090G>A, XM_017008404.2:c.1060G>A, XM_017008404.1:c.1060G>A, XM_047415960.1:c.1036G>A, XM_047415959.1:c.1090G>A, NP_060713.1:p.Ala354Thr, NP_001293076.1:p.Ala364Thr, XP_016863890.1:p.Ala364Thr, XP_016863892.1:p.Ala354Thr, XP_016863891.1:p.Ala364Thr, XP_016863893.1:p.Ala354Thr, XP_047271916.1:p.Ala346Thr, XP_047271915.1:p.Ala364Thr

Select item 14716752115.

rs1471675211 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:77014968 (GRCh38)
4:77936121 (GRCh37)
Canonical SPDI:: NC_000004.12:77014967:A:C
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77014968A>C, NC_000004.11:g.77936121A>C, NM_018243.4:c.638A>C, NM_018243.3:c.638A>C, NM_018243.2:c.638A>C, XR_001741734.2:n.6876T>G, NM_001306147.2:c.668A>C, NM_001306147.1:c.668A>C, XM_017008401.2:c.668A>C, XM_017008401.1:c.668A>C, XM_017008403.2:c.638A>C, XM_017008403.1:c.638A>C, XM_017008402.2:c.668A>C, XM_017008402.1:c.668A>C, XM_017008404.2:c.638A>C, XM_017008404.1:c.638A>C, XM_047415960.1:c.614A>C, XM_047415959.1:c.668A>C, NP_060713.1:p.Gln213Pro, NP_001293076.1:p.Gln223Pro, XP_016863890.1:p.Gln223Pro, XP_016863892.1:p.Gln213Pro, XP_016863891.1:p.Gln223Pro, XP_016863893.1:p.Gln213Pro, XP_047271916.1:p.Gln205Pro, XP_047271915.1:p.Gln223Pro

Select item 14691417336.

rs1469141733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:77011840 (GRCh38)
4:77932993 (GRCh37)
Canonical SPDI:: NC_000004.12:77011839:T:A
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77011840T>A, NC_000004.11:g.77932993T>A, NM_018243.4:c.444T>A, NM_018243.3:c.444T>A, NM_018243.2:c.444T>A, NM_001306147.2:c.474T>A, NM_001306147.1:c.474T>A, XM_017008401.2:c.474T>A, XM_017008401.1:c.474T>A, XM_017008403.2:c.444T>A, XM_017008403.1:c.444T>A, XM_017008402.2:c.474T>A, XM_017008402.1:c.474T>A, XM_017008404.2:c.444T>A, XM_017008404.1:c.444T>A, XM_047415960.1:c.420T>A, XM_047415959.1:c.474T>A, NP_060713.1:p.His148Gln, NP_001293076.1:p.His158Gln, XP_016863890.1:p.His158Gln, XP_016863892.1:p.His148Gln, XP_016863891.1:p.His158Gln, XP_016863893.1:p.His148Gln, XP_047271916.1:p.His140Gln, XP_047271915.1:p.His158Gln

Select item 14667925627.

rs1466792562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:77019213 (GRCh38)
4:77940366 (GRCh37)
Canonical SPDI:: NC_000004.12:77019212:G:A
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77019213G>A, NC_000004.11:g.77940366G>A, NM_018243.4:c.736G>A, NM_018243.3:c.736G>A, NM_018243.2:c.736G>A, XR_001741734.2:n.2631C>T, NM_001306147.2:c.766G>A, NM_001306147.1:c.766G>A, XM_017008401.2:c.766G>A, XM_017008401.1:c.766G>A, XM_017008403.2:c.736G>A, XM_017008403.1:c.736G>A, XM_017008402.2:c.766G>A, XM_017008402.1:c.766G>A, XM_017008404.2:c.736G>A, XM_017008404.1:c.736G>A, XM_047415960.1:c.712G>A, XM_047415959.1:c.766G>A, NP_060713.1:p.Gly246Ser, NP_001293076.1:p.Gly256Ser, XP_016863890.1:p.Gly256Ser, XP_016863892.1:p.Gly246Ser, XP_016863891.1:p.Gly256Ser, XP_016863893.1:p.Gly246Ser, XP_047271916.1:p.Gly238Ser, XP_047271915.1:p.Gly256Ser

Select item 14660440948.

rs1466044094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:77011823 (GRCh38)
4:77932976 (GRCh37)
Canonical SPDI:: NC_000004.12:77011822:C:A,NC_000004.12:77011822:C:T
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.77011823C>A, NC_000004.12:g.77011823C>T, NC_000004.11:g.77932976C>A, NC_000004.11:g.77932976C>T, NM_018243.4:c.427C>A, NM_018243.4:c.427C>T, NM_018243.3:c.427C>A, NM_018243.3:c.427C>T, NM_018243.2:c.427C>A, NM_018243.2:c.427C>T, NM_001306147.2:c.457C>A, NM_001306147.2:c.457C>T, NM_001306147.1:c.457C>A, NM_001306147.1:c.457C>T, XM_017008401.2:c.457C>A, XM_017008401.2:c.457C>T, XM_017008401.1:c.457C>A, XM_017008401.1:c.457C>T, XM_017008403.2:c.427C>A, XM_017008403.2:c.427C>T, XM_017008403.1:c.427C>A, XM_017008403.1:c.427C>T, XM_017008402.2:c.457C>A, XM_017008402.2:c.457C>T, XM_017008402.1:c.457C>A, XM_017008402.1:c.457C>T, XM_017008404.2:c.427C>A, XM_017008404.2:c.427C>T, XM_017008404.1:c.427C>A, XM_017008404.1:c.427C>T, XM_047415960.1:c.403C>A, XM_047415960.1:c.403C>T, XM_047415959.1:c.457C>A, XM_047415959.1:c.457C>T, NP_060713.1:p.His143Asn, NP_060713.1:p.His143Tyr, NP_001293076.1:p.His153Asn, NP_001293076.1:p.His153Tyr, XP_016863890.1:p.His153Asn, XP_016863890.1:p.His153Tyr, XP_016863892.1:p.His143Asn, XP_016863892.1:p.His143Tyr, XP_016863891.1:p.His153Asn, XP_016863891.1:p.His153Tyr, XP_016863893.1:p.His143Asn, XP_016863893.1:p.His143Tyr, XP_047271916.1:p.His135Asn, XP_047271916.1:p.His135Tyr, XP_047271915.1:p.His153Asn, XP_047271915.1:p.His153Tyr

Select item 14649936259.

rs1464993625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:76996534 (GRCh38)
4:77917687 (GRCh37)
Canonical SPDI:: NC_000004.12:76996533:G:A
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.76996534G>A, NC_000004.11:g.77917687G>A, NM_018243.4:c.137G>A, NM_018243.3:c.137G>A, NM_018243.2:c.137G>A, NM_001306147.2:c.167G>A, NM_001306147.1:c.167G>A, XM_017008401.2:c.167G>A, XM_017008401.1:c.167G>A, XM_017008403.2:c.137G>A, XM_017008403.1:c.137G>A, XM_017008402.2:c.167G>A, XM_017008402.1:c.167G>A, XM_017008404.2:c.137G>A, XM_017008404.1:c.137G>A, XM_047415960.1:c.113G>A, XM_047415959.1:c.167G>A, NP_060713.1:p.Cys46Tyr, NP_001293076.1:p.Cys56Tyr, XP_016863890.1:p.Cys56Tyr, XP_016863892.1:p.Cys46Tyr, XP_016863891.1:p.Cys56Tyr, XP_016863893.1:p.Cys46Tyr, XP_047271916.1:p.Cys38Tyr, XP_047271915.1:p.Cys56Tyr

Select item 146190476910.

rs1461904769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:77011909 (GRCh38)
4:77933062 (GRCh37)
Canonical SPDI:: NC_000004.12:77011908:G:T
Gene:: SEPTIN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.77011909G>T, NC_000004.11:g.77933062G>T, NM_018243.4:c.513G>T, NM_018243.3:c.513G>T, NM_018243.2:c.513G>T, NM_001306147.2:c.543G>T, NM_001306147.1:c.543G>T, XM_017008401.2:c.543G>T, XM_017008401.1:c.543G>T, XM_017008403.2:c.513G>T, XM_017008403.1:c.513G>T, XM_017008402.2:c.543G>T, XM_017008402.1:c.543G>T, XM_017008404.2:c.513G>T, XM_017008404.1:c.513G>T, XM_047415960.1:c.489G>T, XM_047415959.1:c.543G>T, NP_060713.1:p.Lys171Asn, NP_001293076.1:p.Lys181Asn, XP_016863890.1:p.Lys181Asn, XP_016863892.1:p.Lys171Asn, XP_016863891.1:p.Lys181Asn, XP_016863893.1:p.Lys171Asn, XP_047271916.1:p.Lys163Asn, XP_047271915.1:p.Lys181Asn

Select item 144781446911.

rs1447814469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:77019245 (GRCh38)
4:77940398 (GRCh37)
Canonical SPDI:: NC_000004.12:77019244:C:T
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77019245C>T, NC_000004.11:g.77940398C>T, NM_018243.4:c.768C>T, NM_018243.3:c.768C>T, NM_018243.2:c.768C>T, XR_001741734.2:n.2599G>A, NM_001306147.2:c.798C>T, NM_001306147.1:c.798C>T, XM_017008401.2:c.798C>T, XM_017008401.1:c.798C>T, XM_017008403.2:c.768C>T, XM_017008403.1:c.768C>T, XM_017008402.2:c.798C>T, XM_017008402.1:c.798C>T, XM_017008404.2:c.768C>T, XM_017008404.1:c.768C>T, XM_047415960.1:c.744C>T, XM_047415959.1:c.798C>T

Select item 144219582312.

rs1442195823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:76996511 (GRCh38)
4:77917664 (GRCh37)
Canonical SPDI:: NC_000004.12:76996510:A:G
Gene:: SEPTIN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.76996511A>G, NC_000004.11:g.77917664A>G, NM_018243.4:c.114A>G, NM_018243.3:c.114A>G, NM_018243.2:c.114A>G, NM_001306147.2:c.144A>G, NM_001306147.1:c.144A>G, XM_017008401.2:c.144A>G, XM_017008401.1:c.144A>G, XM_017008403.2:c.114A>G, XM_017008403.1:c.114A>G, XM_017008402.2:c.144A>G, XM_017008402.1:c.144A>G, XM_017008404.2:c.114A>G, XM_017008404.1:c.114A>G, XM_047415960.1:c.90A>G, XM_047415959.1:c.144A>G

Select item 143770875413.

rs1437708754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:77028747 (GRCh38)
4:77949900 (GRCh37)
Canonical SPDI:: NC_000004.12:77028746:G:A
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.77028747G>A, NC_000004.11:g.77949900G>A, NM_018243.4:c.1072G>A, NM_018243.3:c.1072G>A, NM_018243.2:c.1072G>A, NM_001306147.2:c.1102G>A, NM_001306147.1:c.1102G>A, XM_017008401.2:c.1102G>A, XM_017008401.1:c.1102G>A, XM_017008403.2:c.1072G>A, XM_017008403.1:c.1072G>A, XM_017008402.2:c.1102G>A, XM_017008402.1:c.1102G>A, XM_017008404.2:c.1072G>A, XM_017008404.1:c.1072G>A, XM_047415960.1:c.1048G>A, XM_047415959.1:c.1102G>A, NP_060713.1:p.Glu358Lys, NP_001293076.1:p.Glu368Lys, XP_016863890.1:p.Glu368Lys, XP_016863892.1:p.Glu358Lys, XP_016863891.1:p.Glu368Lys, XP_016863893.1:p.Glu358Lys, XP_047271916.1:p.Glu350Lys, XP_047271915.1:p.Glu368Lys

Select item 143709714514.

rs1437097145 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:77030806 (GRCh38)
4:77951959 (GRCh37)
Canonical SPDI:: NC_000004.12:77030805:A:G
Gene:: SEPTIN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77030806A>G, NC_000004.11:g.77951959A>G, NM_018243.4:c.1110A>G, NM_018243.3:c.1110A>G, NM_018243.2:c.1110A>G, NM_001306147.2:c.1140A>G, NM_001306147.1:c.1140A>G, XM_017008401.2:c.1140A>G, XM_017008401.1:c.1140A>G, XM_017008403.2:c.1110A>G, XM_017008403.1:c.1110A>G, XM_017008402.2:c.1140A>G, XM_017008402.1:c.1140A>G, XM_017008404.2:c.1110A>G, XM_017008404.1:c.1110A>G, XM_047415960.1:c.1086A>G, XM_047415959.1:c.1140A>G

Select item 143042909115.

rs1430429091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:76996475 (GRCh38)
4:77917628 (GRCh37)
Canonical SPDI:: NC_000004.12:76996474:C:T
Gene:: SEPTIN11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.76996475C>T, NC_000004.11:g.77917628C>T, NM_018243.4:c.78C>T, NM_018243.3:c.78C>T, NM_018243.2:c.78C>T, NM_001306147.2:c.108C>T, NM_001306147.1:c.108C>T, XM_017008401.2:c.108C>T, XM_017008401.1:c.108C>T, XM_017008403.2:c.78C>T, XM_017008403.1:c.78C>T, XM_017008402.2:c.108C>T, XM_017008402.1:c.108C>T, XM_017008404.2:c.78C>T, XM_017008404.1:c.78C>T, XM_047415960.1:c.54C>T, XM_047415959.1:c.108C>T

Select item 141957727116.

rs1419577271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:77011895 (GRCh38)
4:77933048 (GRCh37)
Canonical SPDI:: NC_000004.12:77011894:G:A
Gene:: SEPTIN11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000066/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77011895G>A, NC_000004.11:g.77933048G>A, NM_018243.4:c.499G>A, NM_018243.3:c.499G>A, NM_018243.2:c.499G>A, NM_001306147.2:c.529G>A, NM_001306147.1:c.529G>A, XM_017008401.2:c.529G>A, XM_017008401.1:c.529G>A, XM_017008403.2:c.499G>A, XM_017008403.1:c.499G>A, XM_017008402.2:c.529G>A, XM_017008402.1:c.529G>A, XM_017008404.2:c.499G>A, XM_017008404.1:c.499G>A, XM_047415960.1:c.475G>A, XM_047415959.1:c.529G>A, NP_060713.1:p.Val167Ile, NP_001293076.1:p.Val177Ile, XP_016863890.1:p.Val177Ile, XP_016863892.1:p.Val167Ile, XP_016863891.1:p.Val177Ile, XP_016863893.1:p.Val167Ile, XP_047271916.1:p.Val159Ile, XP_047271915.1:p.Val177Ile

Select item 141871666817.

rs1418716668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:77014915 (GRCh38)
4:77936068 (GRCh37)
Canonical SPDI:: NC_000004.12:77014914:A:G
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000004.12:g.77014915A>G, NC_000004.11:g.77936068A>G, NM_018243.4:c.585A>G, NM_018243.3:c.585A>G, NM_018243.2:c.585A>G, XR_001741734.2:n.6929T>C, NM_001306147.2:c.615A>G, NM_001306147.1:c.615A>G, XM_017008401.2:c.615A>G, XM_017008401.1:c.615A>G, XM_017008403.2:c.585A>G, XM_017008403.1:c.585A>G, XM_017008402.2:c.615A>G, XM_017008402.1:c.615A>G, XM_017008404.2:c.585A>G, XM_017008404.1:c.585A>G, XM_047415960.1:c.561A>G, XM_047415959.1:c.615A>G

Select item 141792385518.

rs1417923855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:77019175 (GRCh38)
4:77940328 (GRCh37)
Canonical SPDI:: NC_000004.12:77019174:C:T
Gene:: SEPTIN11 (Varview), LOC105377291 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77019175C>T, NC_000004.11:g.77940328C>T, NM_018243.4:c.698C>T, NM_018243.3:c.698C>T, NM_018243.2:c.698C>T, XR_001741734.2:n.2669G>A, NM_001306147.2:c.728C>T, NM_001306147.1:c.728C>T, XM_017008401.2:c.728C>T, XM_017008401.1:c.728C>T, XM_017008403.2:c.698C>T, XM_017008403.1:c.698C>T, XM_017008402.2:c.728C>T, XM_017008402.1:c.728C>T, XM_017008404.2:c.698C>T, XM_017008404.1:c.698C>T, XM_047415960.1:c.674C>T, XM_047415959.1:c.728C>T, NP_060713.1:p.Pro233Leu, NP_001293076.1:p.Pro243Leu, XP_016863890.1:p.Pro243Leu, XP_016863892.1:p.Pro233Leu, XP_016863891.1:p.Pro243Leu, XP_016863893.1:p.Pro233Leu, XP_047271916.1:p.Pro225Leu, XP_047271915.1:p.Pro243Leu

Select item 141650865119.

rs1416508651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:77005673 (GRCh38)
4:77926826 (GRCh37)
Canonical SPDI:: NC_000004.12:77005672:C:T
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.77005673C>T, NC_000004.11:g.77926826C>T, NM_018243.4:c.215C>T, NM_018243.3:c.215C>T, NM_018243.2:c.215C>T, NM_001306147.2:c.245C>T, NM_001306147.1:c.245C>T, XM_017008401.2:c.245C>T, XM_017008401.1:c.245C>T, XM_017008403.2:c.215C>T, XM_017008403.1:c.215C>T, XM_017008402.2:c.245C>T, XM_017008402.1:c.245C>T, XM_017008404.2:c.215C>T, XM_017008404.1:c.215C>T, XM_047415960.1:c.191C>T, XM_047415959.1:c.245C>T, NP_060713.1:p.Thr72Ile, NP_001293076.1:p.Thr82Ile, XP_016863890.1:p.Thr82Ile, XP_016863892.1:p.Thr72Ile, XP_016863891.1:p.Thr82Ile, XP_016863893.1:p.Thr72Ile, XP_047271916.1:p.Thr64Ile, XP_047271915.1:p.Thr82Ile

Select item 141140788120.

rs1411407881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:77028750 (GRCh38)
4:77949903 (GRCh37)
Canonical SPDI:: NC_000004.12:77028749:G:T
Gene:: SEPTIN11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.77028750G>T, NC_000004.11:g.77949903G>T, NM_018243.4:c.1075G>T, NM_018243.3:c.1075G>T, NM_018243.2:c.1075G>T, NM_001306147.2:c.1105G>T, NM_001306147.1:c.1105G>T, XM_017008401.2:c.1105G>T, XM_017008401.1:c.1105G>T, XM_017008403.2:c.1075G>T, XM_017008403.1:c.1075G>T, XM_017008402.2:c.1105G>T, XM_017008402.1:c.1105G>T, XM_017008404.2:c.1075G>T, XM_017008404.1:c.1075G>T, XM_047415960.1:c.1051G>T, XM_047415959.1:c.1105G>T, NP_060713.1:p.Ala359Ser, NP_001293076.1:p.Ala369Ser, XP_016863890.1:p.Ala369Ser, XP_016863892.1:p.Ala359Ser, XP_016863891.1:p.Ala369Ser, XP_016863893.1:p.Ala359Ser, XP_047271916.1:p.Ala351Ser, XP_047271915.1:p.Ala369Ser

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 309

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 309

Page of 16

Page of 16

Display Settings:

Supplemental Content

Find related data

Recent activity