SNP Links for Protein (Select 4504893) - SNP

Links from Protein

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Select item 14885032851.

rs1488503285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:186717559 (GRCh38)
3:186435348 (GRCh37)
Canonical SPDI:: NC_000003.12:186717558:T:A
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.186717559T>A, NC_000003.11:g.186435348T>A, NG_016009.1:g.5251T>A, NM_000893.4:c.17T>A, NM_000893.3:c.17T>A, NM_001102416.3:c.17T>A, NM_001102416.2:c.17T>A, NM_001166451.2:c.17T>A, NM_001166451.1:c.17T>A, NP_000884.1:p.Ile6Asn, NP_001095886.1:p.Ile6Asn, NP_001159923.1:p.Ile6Asn

Select item 14870208672.

rs1487020867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186743776 (GRCh38)
3:186461565 (GRCh37)
Canonical SPDI:: NC_000003.12:186743775:G:A
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_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_000003.12:g.186743776G>A, NC_000003.11:g.186461565G>A, NG_016009.1:g.31468G>A, NM_000893.4:c.1275G>A, NM_000893.3:c.1275G>A, NM_001102416.3:c.*1445G>A, NM_001166451.2:c.1167G>A, NM_001166451.1:c.1167G>A

Select item 14857931983.

rs1485793198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:186725089 (GRCh38)
3:186442878 (GRCh37)
Canonical SPDI:: NC_000003.12:186725088:C:G,NC_000003.12:186725088:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
T=0.000602/10 (TOMMO)
HGVS:: NC_000003.12:g.186725089C>G, NC_000003.12:g.186725089C>T, NC_000003.11:g.186442878C>G, NC_000003.11:g.186442878C>T, NG_016009.1:g.12781C>G, NG_016009.1:g.12781C>T, NM_000893.4:c.393C>G, NM_000893.4:c.393C>T, NM_000893.3:c.393C>G, NM_000893.3:c.393C>T, NM_001102416.3:c.393C>G, NM_001102416.3:c.393C>T, NM_001102416.2:c.393C>G, NM_001102416.2:c.393C>T, NM_001166451.2:c.393C>G, NM_001166451.2:c.393C>T, NM_001166451.1:c.393C>G, NM_001166451.1:c.393C>T

Select item 14845270604.

rs1484527060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:186725241 (GRCh38)
3:186443030 (GRCh37)
Canonical SPDI:: NC_000003.12:186725240:T:C
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186725241T>C, NC_000003.11:g.186443030T>C, NG_016009.1:g.12933T>C, NM_000893.4:c.545T>C, NM_000893.3:c.545T>C, NM_001102416.3:c.545T>C, NM_001102416.2:c.545T>C, NM_001166451.2:c.545T>C, NM_001166451.1:c.545T>C, NP_000884.1:p.Val182Ala, NP_001095886.1:p.Val182Ala, NP_001159923.1:p.Val182Ala

Select item 14814792975.

rs1481479297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:186727273 (GRCh38)
3:186445062 (GRCh37)
Canonical SPDI:: NC_000003.12:186727272:A:G
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000003.12:g.186727273A>G, NC_000003.11:g.186445062A>G, NG_016009.1:g.14965A>G, NM_000893.4:c.601A>G, NM_000893.3:c.601A>G, NM_001102416.3:c.601A>G, NM_001102416.2:c.601A>G, NP_000884.1:p.Ile201Val, NP_001095886.1:p.Ile201Val

Select item 14777657706.

rs1477765770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:186717606 (GRCh38)
3:186435395 (GRCh37)
Canonical SPDI:: NC_000003.12:186717605:C:G
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.186717606C>G, NC_000003.11:g.186435395C>G, NG_016009.1:g.5298C>G, NM_000893.4:c.64C>G, NM_000893.3:c.64C>G, NM_001102416.3:c.64C>G, NM_001102416.2:c.64C>G, NM_001166451.2:c.64C>G, NM_001166451.1:c.64C>G, NP_000884.1:p.Gln22Glu, NP_001095886.1:p.Gln22Glu, NP_001159923.1:p.Gln22Glu

Select item 14743922977.

rs1474392297 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:186722463 (GRCh38)
3:186440252 (GRCh37)
Canonical SPDI:: NC_000003.12:186722462:GGGG:GGG
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.186722466del, NC_000003.11:g.186440255del, NG_016009.1:g.10158del, NM_000893.4:c.336del, NM_000893.3:c.336del, NM_001102416.3:c.336del, NM_001102416.2:c.336del, NM_001166451.2:c.336del, NM_001166451.1:c.336del, NP_000884.1:p.Lys113fs, NP_001095886.1:p.Lys113fs, NP_001159923.1:p.Lys113fs

Select item 14713722278.

rs1471372227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186722437 (GRCh38)
3:186440226 (GRCh37)
Canonical SPDI:: NC_000003.12:186722436:G:A
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186722437G>A, NC_000003.11:g.186440226G>A, NG_016009.1:g.10129G>A, NM_000893.4:c.307G>A, NM_000893.3:c.307G>A, NM_001102416.3:c.307G>A, NM_001102416.2:c.307G>A, NM_001166451.2:c.307G>A, NM_001166451.1:c.307G>A, NP_000884.1:p.Ala103Thr, NP_001095886.1:p.Ala103Thr, NP_001159923.1:p.Ala103Thr

Select item 14697123409.

rs1469712340 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAG [Show Flanks]
Chromosome:: 3:186725155 (GRCh38)
3:186442945 (GRCh37)
Canonical SPDI:: NC_000003.12:186725155:CCAG:CCAGCCAG
Gene:: KNG1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCAGCCAG=0.000071/1 (ALFA)
CCAG=0.000004/1 (GnomAD_exomes)
CCAG=0.000004/1 (TOPMED)
CCAG=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186725156_186725159dup, NC_000003.11:g.186442945_186442948dup, NG_016009.1:g.12848_12851dup, NM_000893.4:c.460_463dup, NM_000893.3:c.460_463dup, NM_001102416.3:c.460_463dup, NM_001102416.2:c.460_463dup, NM_001166451.2:c.460_463dup, NM_001166451.1:c.460_463dup, NP_000884.1:p.Asp155fs, NP_001095886.1:p.Asp155fs, NP_001159923.1:p.Asp155fs

Select item 146910689410.

rs1469106894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:186739406 (GRCh38)
3:186457195 (GRCh37)
Canonical SPDI:: NC_000003.12:186739405:C:G
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186739406C>G, NC_000003.11:g.186457195C>G, NG_016009.1:g.27098C>G, NM_000893.4:c.1117C>G, NM_000893.3:c.1117C>G, NM_001102416.3:c.1117C>G, NM_001102416.2:c.1117C>G, NM_001166451.2:c.1009C>G, NM_001166451.1:c.1009C>G, NP_000884.1:p.Leu373Val, NP_001095886.1:p.Leu373Val, NP_001159923.1:p.Leu337Val

Select item 146890162011.

rs1468901620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:186720181 (GRCh38)
3:186437970 (GRCh37)
Canonical SPDI:: NC_000003.12:186720180:G:C
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186720181G>C, NC_000003.11:g.186437970G>C, NG_016009.1:g.7873G>C, NM_000893.4:c.272G>C, NM_000893.3:c.272G>C, NM_001102416.3:c.272G>C, NM_001102416.2:c.272G>C, NM_001166451.2:c.272G>C, NM_001166451.1:c.272G>C, NP_000884.1:p.Trp91Ser, NP_001095886.1:p.Trp91Ser, NP_001159923.1:p.Trp91Ser

Select item 146812507112.

rs1468125071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186743768 (GRCh38)
3:186461557 (GRCh37)
Canonical SPDI:: NC_000003.12:186743767:G:A
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.186743768G>A, NC_000003.11:g.186461557G>A, NG_016009.1:g.31460G>A, NM_000893.4:c.1267G>A, NM_000893.3:c.1267G>A, NM_001102416.3:c.*1437G>A, NM_001166451.2:c.1159G>A, NM_001166451.1:c.1159G>A, NP_000884.1:p.Glu423Lys, NP_001159923.1:p.Glu387Lys

Select item 146144836913.

rs1461448369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186717597 (GRCh38)
3:186435386 (GRCh37)
Canonical SPDI:: NC_000003.12:186717596:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.186717597C>T, NC_000003.11:g.186435386C>T, NG_016009.1:g.5289C>T, NM_000893.4:c.55C>T, NM_000893.3:c.55C>T, NM_001102416.3:c.55C>T, NM_001102416.2:c.55C>T, NM_001166451.2:c.55C>T, NM_001166451.1:c.55C>T, NP_000884.1:p.Gln19Ter, NP_001095886.1:p.Gln19Ter, NP_001159923.1:p.Gln19Ter

Select item 146091749414.

rs1460917494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186727246 (GRCh38)
3:186445035 (GRCh37)
Canonical SPDI:: NC_000003.12:186727245:G:A
Gene:: KNG1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186727246G>A, NC_000003.11:g.186445035G>A, NG_016009.1:g.14938G>A, NM_000893.4:c.574G>A, NM_000893.3:c.574G>A, NM_001102416.3:c.574G>A, NM_001102416.2:c.574G>A, NP_000884.1:p.Gly192Arg, NP_001095886.1:p.Gly192Arg

Select item 145943645115.

rs1459436451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186741556 (GRCh38)
3:186459345 (GRCh37)
Canonical SPDI:: NC_000003.12:186741555:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186741556C>T, NC_000003.11:g.186459345C>T, NG_016009.1:g.29248C>T, NM_000893.4:c.1160C>T, NM_000893.3:c.1160C>T, NM_001102416.3:c.1160C>T, NM_001102416.2:c.1160C>T, NM_001166451.2:c.1052C>T, NM_001166451.1:c.1052C>T, NP_000884.1:p.Pro387Leu, NP_001095886.1:p.Pro387Leu, NP_001159923.1:p.Pro351Leu

Select item 145488415016.

rs1454884150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186722451 (GRCh38)
3:186440240 (GRCh37)
Canonical SPDI:: NC_000003.12:186722450:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186722451C>T, NC_000003.11:g.186440240C>T, NG_016009.1:g.10143C>T, NM_000893.4:c.321C>T, NM_000893.3:c.321C>T, NM_001102416.3:c.321C>T, NM_001102416.2:c.321C>T, NM_001166451.2:c.321C>T, NM_001166451.1:c.321C>T

Select item 145288945117.

rs1452889451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:186725128 (GRCh38)
3:186442917 (GRCh37)
Canonical SPDI:: NC_000003.12:186725127:C:A,NC_000003.12:186725127:C:G,NC_000003.12:186725127:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186725128C>A, NC_000003.12:g.186725128C>G, NC_000003.12:g.186725128C>T, NC_000003.11:g.186442917C>A, NC_000003.11:g.186442917C>G, NC_000003.11:g.186442917C>T, NG_016009.1:g.12820C>A, NG_016009.1:g.12820C>G, NG_016009.1:g.12820C>T, NM_000893.4:c.432C>A, NM_000893.4:c.432C>G, NM_000893.4:c.432C>T, NM_000893.3:c.432C>A, NM_000893.3:c.432C>G, NM_000893.3:c.432C>T, NM_001102416.3:c.432C>A, NM_001102416.3:c.432C>G, NM_001102416.3:c.432C>T, NM_001102416.2:c.432C>A, NM_001102416.2:c.432C>G, NM_001102416.2:c.432C>T, NM_001166451.2:c.432C>A, NM_001166451.2:c.432C>G, NM_001166451.2:c.432C>T, NM_001166451.1:c.432C>A, NM_001166451.1:c.432C>G, NM_001166451.1:c.432C>T

Select item 145057534918.

rs1450575349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186739396 (GRCh38)
3:186457185 (GRCh37)
Canonical SPDI:: NC_000003.12:186739395:C:T
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186739396C>T, NC_000003.11:g.186457185C>T, NG_016009.1:g.27088C>T, NM_000893.4:c.1107C>T, NM_000893.3:c.1107C>T, NM_001102416.3:c.1107C>T, NM_001102416.2:c.1107C>T, NM_001166451.2:c.999C>T, NM_001166451.1:c.999C>T

Select item 144776569919.

rs1447765699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:186739160 (GRCh38)
3:186456949 (GRCh37)
Canonical SPDI:: NC_000003.12:186739159:A:G
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.186739160A>G, NC_000003.11:g.186456949A>G, NG_016009.1:g.26852A>G, NM_000893.4:c.992A>G, NM_000893.3:c.992A>G, NM_001102416.3:c.992A>G, NM_001102416.2:c.992A>G, NM_001166451.2:c.884A>G, NM_001166451.1:c.884A>G, NP_000884.1:p.Glu331Gly, NP_001095886.1:p.Glu331Gly, NP_001159923.1:p.Glu295Gly

Select item 144401137220.

rs1444011372 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:186727303 (GRCh38)
3:186445092 (GRCh37)
Canonical SPDI:: NC_000003.12:186727302:T:A,NC_000003.12:186727302:T:C
Gene:: KNG1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.186727303T>A, NC_000003.12:g.186727303T>C, NC_000003.11:g.186445092T>A, NC_000003.11:g.186445092T>C, NG_016009.1:g.14995T>A, NG_016009.1:g.14995T>C, NM_000893.4:c.631T>A, NM_000893.4:c.631T>C, NM_000893.3:c.631T>A, NM_000893.3:c.631T>C, NM_001102416.3:c.631T>A, NM_001102416.3:c.631T>C, NM_001102416.2:c.631T>A, NM_001102416.2:c.631T>C, NP_000884.1:p.Phe211Ile, NP_000884.1:p.Phe211Leu, NP_001095886.1:p.Phe211Ile, NP_001095886.1:p.Phe211Leu

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