SNP Links for Protein (Select 215272334) - SNP

Links from Protein

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Select item 14785474031.

rs1478547403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118143855 (GRCh38)
11:118014570 (GRCh37)
Canonical SPDI:: NC_000011.10:118143854:G:A
Gene:: SCN4B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118143855G>A, NC_000011.9:g.118014570G>A, NG_011710.1:g.14061C>T, NM_174934.4:c.441C>T, NM_174934.3:c.441C>T, NM_001142349.2:c.111C>T, NM_001142349.1:c.111C>T

Select item 14758665892.

rs1475866589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:118143939 (GRCh38)
11:118014654 (GRCh37)
Canonical SPDI:: NC_000011.10:118143938:C:A
Gene:: SCN4B (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.118143939C>A, NC_000011.9:g.118014654C>A, NG_011710.1:g.13977G>T, NM_174934.4:c.357G>T, NM_174934.3:c.357G>T, NM_001142349.2:c.27G>T, NM_001142349.1:c.27G>T, NP_777594.1:p.Arg119Ser, NP_001135821.1:p.Arg9Ser

Select item 14718738873.

rs1471873887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:118141282 (GRCh38)
11:118011997 (GRCh37)
Canonical SPDI:: NC_000011.10:118141281:A:C,NC_000011.10:118141281:A:G
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.006004/11 (Korea1K)
HGVS:: NC_000011.10:g.118141282A>C, NC_000011.10:g.118141282A>G, NC_000011.9:g.118011997A>C, NC_000011.9:g.118011997A>G, NG_011710.1:g.16634T>G, NG_011710.1:g.16634T>C, NM_174934.4:c.518T>G, NM_174934.4:c.518T>C, NM_174934.3:c.518T>G, NM_174934.3:c.518T>C, NM_001142349.2:c.188T>G, NM_001142349.2:c.188T>C, NM_001142349.1:c.188T>G, NM_001142349.1:c.188T>C, NR_024527.2:n.507T>G, NR_024527.2:n.507T>C, NR_024527.1:n.543T>G, NR_024527.1:n.543T>C, NM_001142348.2:c.116T>G, NM_001142348.2:c.116T>C, NM_001142348.1:c.116T>G, NM_001142348.1:c.116T>C, NP_777594.1:p.Val173Gly, NP_777594.1:p.Val173Ala, NP_001135821.1:p.Val63Gly, NP_001135821.1:p.Val63Ala, NP_001135820.1:p.Val39Gly, NP_001135820.1:p.Val39Ala

Select item 14651879614.

rs1465187961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118137040 (GRCh38)
11:118007755 (GRCh37)
Canonical SPDI:: NC_000011.10:118137039:G:T
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118137040G>T, NC_000011.9:g.118007755G>T, NG_011710.1:g.20876C>A, NM_174934.4:c.674C>A, NM_174934.3:c.674C>A, NM_001142349.2:c.344C>A, NM_001142349.1:c.344C>A, NR_024527.2:n.663C>A, NR_024527.1:n.699C>A, NM_001142348.2:c.272C>A, NM_001142348.1:c.272C>A, NP_777594.1:p.Pro225His, NP_001135821.1:p.Pro115His, NP_001135820.1:p.Pro91His

Select item 14542166385.

rs1454216638 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 11:118143921 (GRCh38)
11:118014636 (GRCh37)
Canonical SPDI:: NC_000011.10:118143918:GTGT:GT
Gene:: SCN4B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118143919GT[1], NC_000011.9:g.118014634GT[1], NG_011710.1:g.13994AC[1], NM_174934.4:c.376_377del, NM_174934.3:c.376_377del, NM_001142349.2:c.46_47del, NM_001142349.1:c.46_47del, NP_777594.1:p.Thr126fs, NP_001135821.1:p.Thr16fs

Select item 14488401916.

rs1448840191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118141299 (GRCh38)
11:118012014 (GRCh37)
Canonical SPDI:: NC_000011.10:118141298:C:T
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118141299C>T, NC_000011.9:g.118012014C>T, NG_011710.1:g.16617G>A, NM_174934.4:c.501G>A, NM_174934.3:c.501G>A, NM_001142349.2:c.171G>A, NM_001142349.1:c.171G>A, NR_024527.2:n.490G>A, NR_024527.1:n.526G>A, NM_001142348.2:c.99G>A, NM_001142348.1:c.99G>A

Select item 14474141587.

rs1447414158 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAGGA>-,TGAGGATGAGGA [Show Flanks]
Chromosome:: 11:118141268 (GRCh38)
11:118011983 (GRCh37)
Canonical SPDI:: NC_000011.10:118141257:AGGATGAGGATGAGGA:AGGATGAGGA,NC_000011.10:118141257:AGGATGAGGATGAGGA:AGGATGAGGATGAGGATGAGGA
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant,inframe_deletion
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: AGGATGAGGATGAGGATGAGGA=0./0 (ALFA)
AGGATG=0.000004/1 (TOPMED)
AGGATG=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118141262TGAGGA[1], NC_000011.10:g.118141262TGAGGA[3], NC_000011.9:g.118011977TGAGGA[1], NC_000011.9:g.118011977TGAGGA[3], NG_011710.1:g.16647CATCCT[1], NG_011710.1:g.16647CATCCT[3], NM_174934.4:c.531CATCCT[1], NM_174934.4:c.531CATCCT[3], NM_174934.3:c.531CATCCT[1], NM_174934.3:c.531CATCCT[3], NM_001142349.2:c.201CATCCT[1], NM_001142349.2:c.201CATCCT[3], NM_001142349.1:c.201CATCCT[1], NM_001142349.1:c.201CATCCT[3], NR_024527.2:n.520CATCCT[1], NR_024527.2:n.520CATCCT[3], NR_024527.1:n.556CATCCT[1], NR_024527.1:n.556CATCCT[3], NM_001142348.2:c.129CATCCT[1], NM_001142348.2:c.129CATCCT[3], NM_001142348.1:c.129CATCCT[1], NM_001142348.1:c.129CATCCT[3], NP_777594.1:p.178IL[1], NP_777594.1:p.178IL[3], NP_001135821.1:p.68IL[1], NP_001135821.1:p.68IL[3], NP_001135820.1:p.44IL[1], NP_001135820.1:p.44IL[3]

Select item 14462399288.

rs1446239928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:118137104 (GRCh38)
11:118007819 (GRCh37)
Canonical SPDI:: NC_000011.10:118137103:T:C
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.118137104T>C, NC_000011.9:g.118007819T>C, NG_011710.1:g.20812A>G, NM_174934.4:c.610A>G, NM_174934.3:c.610A>G, NM_001142349.2:c.280A>G, NM_001142349.1:c.280A>G, NR_024527.2:n.599A>G, NR_024527.1:n.635A>G, NM_001142348.2:c.208A>G, NM_001142348.1:c.208A>G, NP_777594.1:p.Ser204Gly, NP_001135821.1:p.Ser94Gly, NP_001135820.1:p.Ser70Gly

Select item 14454429679.

rs1445442967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118143957 (GRCh38)
11:118014672 (GRCh37)
Canonical SPDI:: NC_000011.10:118143956:G:A
Gene:: SCN4B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118143957G>A, NC_000011.9:g.118014672G>A, NG_011710.1:g.13959C>T, NM_174934.4:c.339C>T, NM_174934.3:c.339C>T, NM_001142349.2:c.9C>T, NM_001142349.1:c.9C>T

Select item 141886481610.

rs1418864816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118137084 (GRCh38)
11:118007799 (GRCh37)
Canonical SPDI:: NC_000011.10:118137083:G:A
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.118137084G>A, NC_000011.9:g.118007799G>A, NG_011710.1:g.20832C>T, NM_174934.4:c.630C>T, NM_174934.3:c.630C>T, NM_001142349.2:c.300C>T, NM_001142349.1:c.300C>T, NR_024527.2:n.619C>T, NR_024527.1:n.655C>T, NM_001142348.2:c.228C>T, NM_001142348.1:c.228C>T

Select item 141535920411.

rs1415359204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:118141270 (GRCh38)
11:118011985 (GRCh37)
Canonical SPDI:: NC_000011.10:118141269:A:G
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118141270A>G, NC_000011.9:g.118011985A>G, NG_011710.1:g.16646T>C, NM_174934.4:c.530T>C, NM_174934.3:c.530T>C, NM_001142349.2:c.200T>C, NM_001142349.1:c.200T>C, NR_024527.2:n.519T>C, NR_024527.1:n.555T>C, NM_001142348.2:c.128T>C, NM_001142348.1:c.128T>C, NP_777594.1:p.Leu177Pro, NP_001135821.1:p.Leu67Pro, NP_001135820.1:p.Leu43Pro

Select item 141101416712.

rs1411014167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:118137044 (GRCh38)
11:118007759 (GRCh37)
Canonical SPDI:: NC_000011.10:118137043:G:T
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118137044G>T, NC_000011.9:g.118007759G>T, NG_011710.1:g.20872C>A, NM_174934.4:c.670C>A, NM_174934.3:c.670C>A, NM_001142349.2:c.340C>A, NM_001142349.1:c.340C>A, NR_024527.2:n.659C>A, NR_024527.1:n.695C>A, NM_001142348.2:c.268C>A, NM_001142348.1:c.268C>A, NP_777594.1:p.Pro224Thr, NP_001135821.1:p.Pro114Thr, NP_001135820.1:p.Pro90Thr

Select item 139093769113.

rs1390937691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118141288 (GRCh38)
11:118012003 (GRCh37)
Canonical SPDI:: NC_000011.10:118141287:C:T
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118141288C>T, NC_000011.9:g.118012003C>T, NG_011710.1:g.16628G>A, NM_174934.4:c.512G>A, NM_174934.3:c.512G>A, NM_001142349.2:c.182G>A, NM_001142349.1:c.182G>A, NR_024527.2:n.501G>A, NR_024527.1:n.537G>A, NM_001142348.2:c.110G>A, NM_001142348.1:c.110G>A, NP_777594.1:p.Gly171Asp, NP_001135821.1:p.Gly61Asp, NP_001135820.1:p.Gly37Asp

Select item 138996351714.

rs1389963517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118143889 (GRCh38)
11:118014604 (GRCh37)
Canonical SPDI:: NC_000011.10:118143888:G:A
Gene:: SCN4B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.118143889G>A, NC_000011.9:g.118014604G>A, NG_011710.1:g.14027C>T, NM_174934.4:c.407C>T, NM_174934.3:c.407C>T, NM_001142349.2:c.77C>T, NM_001142349.1:c.77C>T, NP_777594.1:p.Pro136Leu, NP_001135821.1:p.Pro26Leu

Select item 138970095915.

rs1389700959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:118141222 (GRCh38)
11:118011937 (GRCh37)
Canonical SPDI:: NC_000011.10:118141221:T:G
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.118141222T>G, NC_000011.9:g.118011937T>G, NG_011710.1:g.16694A>C, NM_174934.4:c.578A>C, NM_174934.3:c.578A>C, NM_001142349.2:c.248A>C, NM_001142349.1:c.248A>C, NR_024527.2:n.567A>C, NR_024527.1:n.603A>C, NM_001142348.2:c.176A>C, NM_001142348.1:c.176A>C, NP_777594.1:p.Lys193Thr, NP_001135821.1:p.Lys83Thr, NP_001135820.1:p.Lys59Thr

Select item 138889656716.

rs1388896567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:118137103 (GRCh38)
11:118007818 (GRCh37)
Canonical SPDI:: NC_000011.10:118137102:C:G
Gene:: SCN4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118137103C>G, NC_000011.9:g.118007818C>G, NG_011710.1:g.20813G>C, NM_174934.4:c.611G>C, NM_174934.3:c.611G>C, NM_001142349.2:c.281G>C, NM_001142349.1:c.281G>C, NR_024527.2:n.600G>C, NR_024527.1:n.636G>C, NM_001142348.2:c.209G>C, NM_001142348.1:c.209G>C, NP_777594.1:p.Ser204Thr, NP_001135821.1:p.Ser94Thr, NP_001135820.1:p.Ser70Thr

Select item 138848360317.

rs1388483603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:118143869 (GRCh38)
11:118014584 (GRCh37)
Canonical SPDI:: NC_000011.10:118143868:G:A
Gene:: SCN4B (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.118143869G>A, NC_000011.9:g.118014584G>A, NG_011710.1:g.14047C>T, NM_174934.4:c.427C>T, NM_174934.3:c.427C>T, NM_001142349.2:c.97C>T, NM_001142349.1:c.97C>T, NP_777594.1:p.His143Tyr, NP_001135821.1:p.His33Tyr

Select item 135360705118.

rs1353607051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:118143923 (GRCh38)
11:118014638 (GRCh37)
Canonical SPDI:: NC_000011.10:118143922:C:T
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.118143923C>T, NC_000011.9:g.118014638C>T, NG_011710.1:g.13993G>A, NM_174934.4:c.373G>A, NM_174934.3:c.373G>A, NM_001142349.2:c.43G>A, NM_001142349.1:c.43G>A, NP_777594.1:p.Asp125Asn, NP_001135821.1:p.Asp15Asn

Select item 135290029019.

rs1352900290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:118137041 (GRCh38)
11:118007756 (GRCh37)
Canonical SPDI:: NC_000011.10:118137040:G:A,NC_000011.10:118137040:G:C
Gene:: SCN4B (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.118137041G>A, NC_000011.10:g.118137041G>C, NC_000011.9:g.118007756G>A, NC_000011.9:g.118007756G>C, NG_011710.1:g.20875C>T, NG_011710.1:g.20875C>G, NM_174934.4:c.673C>T, NM_174934.4:c.673C>G, NM_174934.3:c.673C>T, NM_174934.3:c.673C>G, NM_001142349.2:c.343C>T, NM_001142349.2:c.343C>G, NM_001142349.1:c.343C>T, NM_001142349.1:c.343C>G, NR_024527.2:n.662C>T, NR_024527.2:n.662C>G, NR_024527.1:n.698C>T, NR_024527.1:n.698C>G, NM_001142348.2:c.271C>T, NM_001142348.2:c.271C>G, NM_001142348.1:c.271C>T, NM_001142348.1:c.271C>G, NP_777594.1:p.Pro225Ser, NP_777594.1:p.Pro225Ala, NP_001135821.1:p.Pro115Ser, NP_001135821.1:p.Pro115Ala, NP_001135820.1:p.Pro91Ser, NP_001135820.1:p.Pro91Ala

Select item 133891299020.

rs1338912990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:118137064 (GRCh38)
11:118007779 (GRCh37)
Canonical SPDI:: NC_000011.10:118137063:C:A,NC_000011.10:118137063:C:T
Gene:: SCN4B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.118137064C>A, NC_000011.10:g.118137064C>T, NC_000011.9:g.118007779C>A, NC_000011.9:g.118007779C>T, NG_011710.1:g.20852G>T, NG_011710.1:g.20852G>A, NM_174934.4:c.650G>T, NM_174934.4:c.650G>A, NM_174934.3:c.650G>T, NM_174934.3:c.650G>A, NM_001142349.2:c.320G>T, NM_001142349.2:c.320G>A, NM_001142349.1:c.320G>T, NM_001142349.1:c.320G>A, NR_024527.2:n.639G>T, NR_024527.2:n.639G>A, NR_024527.1:n.675G>T, NR_024527.1:n.675G>A, NM_001142348.2:c.248G>T, NM_001142348.2:c.248G>A, NM_001142348.1:c.248G>T, NM_001142348.1:c.248G>A, NP_777594.1:p.Gly217Val, NP_777594.1:p.Gly217Asp, NP_001135821.1:p.Gly107Val, NP_001135821.1:p.Gly107Asp, NP_001135820.1:p.Gly83Val, NP_001135820.1:p.Gly83Asp

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