SNP Links for Protein (Select 23397464) - SNP

Links from Protein

Items: 1 to 20 of 344

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Select item 14909152031.

rs1490915203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761495 (GRCh38)
1:35227096 (GRCh37)
Canonical SPDI:: NC_000001.11:34761494:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761495C>T, NC_000001.10:g.35227096C>T, NG_016243.1:g.6755C>T, NM_153212.3:c.241C>T, NM_153212.2:c.241C>T, XM_011540679.3:c.241C>T, XM_011540679.2:c.241C>T, XM_011540679.1:c.241C>T, NP_694944.1:p.Leu81Phe, XP_011538981.1:p.Leu81Phe

Select item 14825547192.

rs1482554719 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761260 (GRCh38)
1:35226861 (GRCh37)
Canonical SPDI:: NC_000001.11:34761259:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761260C>T, NC_000001.10:g.35226861C>T, NG_016243.1:g.6520C>T, NM_153212.3:c.6C>T, NM_153212.2:c.6C>T, XM_011540679.3:c.6C>T, XM_011540679.2:c.6C>T, XM_011540679.1:c.6C>T

Select item 14821705873.

rs1482170587 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:34761761 (GRCh38)
1:35227362 (GRCh37)
Canonical SPDI:: NC_000001.11:34761760:CCCCC:CCCC
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.34761765del, NC_000001.10:g.35227366del, NG_016243.1:g.7025del, NM_153212.3:c.511del, NM_153212.2:c.511del, XM_011540679.3:c.511del, XM_011540679.2:c.511del, XM_011540679.1:c.511del, NP_694944.1:p.His171fs, XP_011538981.1:p.His171fs

Select item 14774112534.

rs1477411253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34761274 (GRCh38)
1:35226875 (GRCh37)
Canonical SPDI:: NC_000001.11:34761273:A:G
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.34761274A>G, NC_000001.10:g.35226875A>G, NG_016243.1:g.6534A>G, NM_153212.3:c.20A>G, NM_153212.2:c.20A>G, XM_011540679.3:c.20A>G, XM_011540679.2:c.20A>G, XM_011540679.1:c.20A>G, NP_694944.1:p.Gln7Arg, XP_011538981.1:p.Gln7Arg

Select item 14771876855.

rs1477187685 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 1:34761399 (GRCh38)
1:35227000 (GRCh37)
Canonical SPDI:: NC_000001.11:34761396:AGAAG:AG
Gene:: GJB4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761399_34761401del, NC_000001.10:g.35227000_35227002del, NG_016243.1:g.6659_6661del, NM_153212.3:c.145_147del, NM_153212.2:c.145_147del, XM_011540679.3:c.145_147del, XM_011540679.2:c.145_147del, XM_011540679.1:c.145_147del, NP_694944.1:p.Lys49del, XP_011538981.1:p.Lys49del

Select item 14739456166.

rs1473945616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34762021 (GRCh38)
1:35227622 (GRCh37)
Canonical SPDI:: NC_000001.11:34762020:G:A
Gene:: GJB4 (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_000001.11:g.34762021G>A, NC_000001.10:g.35227622G>A, NG_016243.1:g.7281G>A, NM_153212.3:c.767G>A, NM_153212.2:c.767G>A, XM_011540679.3:c.767G>A, XM_011540679.2:c.767G>A, XM_011540679.1:c.767G>A, NP_694944.1:p.Gly256Glu, XP_011538981.1:p.Gly256Glu

Select item 14682352917.

rs1468235291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34761882 (GRCh38)
1:35227483 (GRCh37)
Canonical SPDI:: NC_000001.11:34761881:G:A
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761882G>A, NC_000001.10:g.35227483G>A, NG_016243.1:g.7142G>A, NM_153212.3:c.628G>A, NM_153212.2:c.628G>A, XM_011540679.3:c.628G>A, XM_011540679.2:c.628G>A, XM_011540679.1:c.628G>A, NP_694944.1:p.Gly210Ser, XP_011538981.1:p.Gly210Ser

Select item 14542375568.

rs1454237556 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:34761999 (GRCh38)
1:35227600 (GRCh37)
Canonical SPDI:: NC_000001.11:34761998:AA:A
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34762000del, NC_000001.10:g.35227601del, NG_016243.1:g.7260del, NM_153212.3:c.746del, NM_153212.2:c.746del, XM_011540679.3:c.746del, XM_011540679.2:c.746del, XM_011540679.1:c.746del, NP_694944.1:p.Asn249fs, XP_011538981.1:p.Asn249fs

Select item 14501896409.

rs1450189640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:34761443 (GRCh38)
1:35227044 (GRCh37)
Canonical SPDI:: NC_000001.11:34761442:C:G
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34761443C>G, NC_000001.10:g.35227044C>G, NG_016243.1:g.6703C>G, NM_153212.3:c.189C>G, NM_153212.2:c.189C>G, XM_011540679.3:c.189C>G, XM_011540679.2:c.189C>G, XM_011540679.1:c.189C>G

Select item 144829108810.

rs1448291088 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34761714 (GRCh38)
1:35227315 (GRCh37)
Canonical SPDI:: NC_000001.11:34761713:A:G
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34761714A>G, NC_000001.10:g.35227315A>G, NG_016243.1:g.6974A>G, NM_153212.3:c.460A>G, NM_153212.2:c.460A>G, XM_011540679.3:c.460A>G, XM_011540679.2:c.460A>G, XM_011540679.1:c.460A>G, NP_694944.1:p.Lys154Glu, XP_011538981.1:p.Lys154Glu

Select item 142556508011.

rs1425565080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34761754 (GRCh38)
1:35227355 (GRCh37)
Canonical SPDI:: NC_000001.11:34761753:A:G
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.34761754A>G, NC_000001.10:g.35227355A>G, NG_016243.1:g.7014A>G, NM_153212.3:c.500A>G, NM_153212.2:c.500A>G, XM_011540679.3:c.500A>G, XM_011540679.2:c.500A>G, XM_011540679.1:c.500A>G, NP_694944.1:p.Glu167Gly, XP_011538981.1:p.Glu167Gly

Select item 142364209512.

rs1423642095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34762008 (GRCh38)
1:35227609 (GRCh37)
Canonical SPDI:: NC_000001.11:34762007:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34762008C>T, NC_000001.10:g.35227609C>T, NG_016243.1:g.7268C>T, NM_153212.3:c.754C>T, NM_153212.2:c.754C>T, XM_011540679.3:c.754C>T, XM_011540679.2:c.754C>T, XM_011540679.1:c.754C>T

Select item 142268680213.

rs1422686802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:34761847 (GRCh38)
1:35227448 (GRCh37)
Canonical SPDI:: NC_000001.11:34761846:T:A
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.34761847T>A, NC_000001.10:g.35227448T>A, NG_016243.1:g.7107T>A, NM_153212.3:c.593T>A, NM_153212.2:c.593T>A, XM_011540679.3:c.593T>A, XM_011540679.2:c.593T>A, XM_011540679.1:c.593T>A, NP_694944.1:p.Ile198Asn, XP_011538981.1:p.Ile198Asn

Select item 141804044714.

rs1418040447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34761378 (GRCh38)
1:35226979 (GRCh37)
Canonical SPDI:: NC_000001.11:34761377:G:A
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000001.11:g.34761378G>A, NC_000001.10:g.35226979G>A, NG_016243.1:g.6638G>A, NM_153212.3:c.124G>A, NM_153212.2:c.124G>A, XM_011540679.3:c.124G>A, XM_011540679.2:c.124G>A, XM_011540679.1:c.124G>A, NP_694944.1:p.Glu42Lys, XP_011538981.1:p.Glu42Lys

Select item 141435089815.

rs1414350898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:34761916 (GRCh38)
1:35227517 (GRCh37)
Canonical SPDI:: NC_000001.11:34761915:A:G
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.34761916A>G, NC_000001.10:g.35227517A>G, NG_016243.1:g.7176A>G, NM_153212.3:c.662A>G, NM_153212.2:c.662A>G, XM_011540679.3:c.662A>G, XM_011540679.2:c.662A>G, XM_011540679.1:c.662A>G, NP_694944.1:p.His221Arg, XP_011538981.1:p.His221Arg

Select item 141361520316.

rs1413615203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761278 (GRCh38)
1:35226879 (GRCh37)
Canonical SPDI:: NC_000001.11:34761277:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761278C>T, NC_000001.10:g.35226879C>T, NG_016243.1:g.6538C>T, NM_153212.3:c.24C>T, NM_153212.2:c.24C>T, XM_011540679.3:c.24C>T, XM_011540679.2:c.24C>T, XM_011540679.1:c.24C>T

Select item 141290735917.

rs1412907359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 1:34761475 (GRCh38)
1:35227076 (GRCh37)
Canonical SPDI:: NC_000001.11:34761474:T:A,NC_000001.11:34761474:T:G
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.34761475T>A, NC_000001.11:g.34761475T>G, NC_000001.10:g.35227076T>A, NC_000001.10:g.35227076T>G, NG_016243.1:g.6735T>A, NG_016243.1:g.6735T>G, NM_153212.3:c.221T>A, NM_153212.3:c.221T>G, NM_153212.2:c.221T>A, NM_153212.2:c.221T>G, XM_011540679.3:c.221T>A, XM_011540679.3:c.221T>G, XM_011540679.2:c.221T>A, XM_011540679.2:c.221T>G, XM_011540679.1:c.221T>A, XM_011540679.1:c.221T>G, NP_694944.1:p.Val74Glu, NP_694944.1:p.Val74Gly, XP_011538981.1:p.Val74Glu, XP_011538981.1:p.Val74Gly

Select item 140944603218.

rs1409446032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:34761742 (GRCh38)
1:35227343 (GRCh37)
Canonical SPDI:: NC_000001.11:34761741:C:T
Gene:: GJB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761742C>T, NC_000001.10:g.35227343C>T, NG_016243.1:g.7002C>T, NM_153212.3:c.488C>T, NM_153212.2:c.488C>T, XM_011540679.3:c.488C>T, XM_011540679.2:c.488C>T, XM_011540679.1:c.488C>T, NP_694944.1:p.Ala163Val, XP_011538981.1:p.Ala163Val

Select item 140902963719.

rs1409029637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:34761636 (GRCh38)
1:35227237 (GRCh37)
Canonical SPDI:: NC_000001.11:34761635:T:C
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.34761636T>C, NC_000001.10:g.35227237T>C, NG_016243.1:g.6896T>C, NM_153212.3:c.382T>C, NM_153212.2:c.382T>C, XM_011540679.3:c.382T>C, XM_011540679.2:c.382T>C, XM_011540679.1:c.382T>C, NP_694944.1:p.Trp128Arg, XP_011538981.1:p.Trp128Arg

Select item 140680876320.

rs1406808763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:34761890 (GRCh38)
1:35227491 (GRCh37)
Canonical SPDI:: NC_000001.11:34761889:G:A
Gene:: GJB4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.34761890G>A, NC_000001.10:g.35227491G>A, NG_016243.1:g.7150G>A, NM_153212.3:c.636G>A, NM_153212.2:c.636G>A, XM_011540679.3:c.636G>A, XM_011540679.2:c.636G>A, XM_011540679.1:c.636G>A

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