SNP Links for Protein (Select 297139777) - SNP

Links from Protein

Items: 1 to 20 of 167

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Select item 14814901151.

rs1481490115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2497012 (GRCh38)
4:2498739 (GRCh37)
Canonical SPDI:: NC_000004.12:2497011:G:A
Gene:: RNF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2497012G>A, NC_000004.11:g.2498739G>A, NM_002938.5:c.15G>A, NM_002938.4:c.15G>A, NM_001185009.3:c.15G>A, NM_001185009.2:c.15G>A, NM_001185010.3:c.15G>A, NM_001185010.2:c.15G>A, XM_047416062.1:c.15G>A

Select item 14799291922.

rs1479929192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2513807 (GRCh38)
4:2515534 (GRCh37)
Canonical SPDI:: NC_000004.12:2513806:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2513807C>T, NC_000004.11:g.2515534C>T, NM_002938.5:c.561C>T, NM_002938.4:c.561C>T, NM_001185009.3:c.561C>T, NM_001185009.2:c.561C>T, NM_001185010.3:c.*59C>T, NM_001185010.2:c.*59C>T, XM_047416062.1:c.561C>T

Select item 14697161993.

rs1469716199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:2513100 (GRCh38)
4:2514827 (GRCh37)
Canonical SPDI:: NC_000004.12:2513099:G:C,NC_000004.12:2513099:G:T
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2513100G>C, NC_000004.12:g.2513100G>T, NC_000004.11:g.2514827G>C, NC_000004.11:g.2514827G>T, NM_002938.5:c.392G>C, NM_002938.5:c.392G>T, NM_002938.4:c.392G>C, NM_002938.4:c.392G>T, NM_001185009.3:c.392G>C, NM_001185009.3:c.392G>T, NM_001185009.2:c.392G>C, NM_001185009.2:c.392G>T, NM_001185010.3:c.232G>C, NM_001185010.3:c.232G>T, NM_001185010.2:c.232G>C, NM_001185010.2:c.232G>T, XM_047416062.1:c.392G>C, XM_047416062.1:c.392G>T, NP_002929.1:p.Ser131Thr, NP_002929.1:p.Ser131Ile, NP_001171938.1:p.Ser131Thr, NP_001171938.1:p.Ser131Ile, NP_001171939.1:p.Val78Leu, NP_001171939.1:p.Val78Phe, XP_047272018.1:p.Ser131Thr, XP_047272018.1:p.Ser131Ile

Select item 14682561874.

rs1468256187 has merged into rs909476510 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 4:2512456 (GRCh38)
4:2514183 (GRCh37)
Canonical SPDI:: NC_000004.12:2512455:GG:G,NC_000004.12:2512455:GG:GGG
Gene:: RNF4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
HGVS:: NC_000004.12:g.2512457del, NC_000004.12:g.2512457dup, NC_000004.11:g.2514184del, NC_000004.11:g.2514184dup, NM_002938.5:c.234del, NM_002938.5:c.234dup, NM_002938.4:c.234del, NM_002938.4:c.234dup, NM_001185009.3:c.234del, NM_001185009.3:c.234dup, NM_001185009.2:c.234del, NM_001185009.2:c.234dup, XM_047416062.1:c.234del, XM_047416062.1:c.234dup, NP_002929.1:p.Asn79fs, NP_002929.1:p.Asn79fs, NP_001171938.1:p.Asn79fs, NP_001171938.1:p.Asn79fs, XP_047272018.1:p.Asn79fs, XP_047272018.1:p.Asn79fs

Select item 14608723625.

rs1460872362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2500719 (GRCh38)
4:2502446 (GRCh37)
Canonical SPDI:: NC_000004.12:2500718:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.2500719C>T, NC_000004.11:g.2502446C>T, NM_002938.5:c.185C>T, NM_002938.4:c.185C>T, NM_001185009.3:c.185C>T, NM_001185009.2:c.185C>T, NM_001185010.3:c.185C>T, NM_001185010.2:c.185C>T, XM_047416062.1:c.185C>T, NP_002929.1:p.Thr62Ile, NP_001171938.1:p.Thr62Ile, NP_001171939.1:p.Thr62Ile, XP_047272018.1:p.Thr62Ile

Select item 14535027206.

rs1453502720 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2497052 (GRCh38)
4:2498779 (GRCh37)
Canonical SPDI:: NC_000004.12:2497051:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000004.12:g.2497052C>T, NC_000004.11:g.2498779C>T, NM_002938.5:c.55C>T, NM_002938.4:c.55C>T, NM_001185009.3:c.55C>T, NM_001185009.2:c.55C>T, NM_001185010.3:c.55C>T, NM_001185010.2:c.55C>T, XM_047416062.1:c.55C>T, NP_002929.1:p.Arg19Ter, NP_001171938.1:p.Arg19Ter, NP_001171939.1:p.Arg19Ter, XP_047272018.1:p.Arg19Ter

Select item 14533817537.

rs1453381753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2512475 (GRCh38)
4:2514202 (GRCh37)
Canonical SPDI:: NC_000004.12:2512474:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.2512475C>T, NC_000004.11:g.2514202C>T, NM_002938.5:c.252C>T, NM_002938.4:c.252C>T, NM_001185009.3:c.252C>T, NM_001185009.2:c.252C>T, XM_047416062.1:c.252C>T

Select item 14513067738.

rs1451306773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:2500704 (GRCh38)
4:2502431 (GRCh37)
Canonical SPDI:: NC_000004.12:2500703:T:C,NC_000004.12:2500703:T:G
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.2500704T>C, NC_000004.12:g.2500704T>G, NC_000004.11:g.2502431T>C, NC_000004.11:g.2502431T>G, NM_002938.5:c.170T>C, NM_002938.5:c.170T>G, NM_002938.4:c.170T>C, NM_002938.4:c.170T>G, NM_001185009.3:c.170T>C, NM_001185009.3:c.170T>G, NM_001185009.2:c.170T>C, NM_001185009.2:c.170T>G, NM_001185010.3:c.170T>C, NM_001185010.3:c.170T>G, NM_001185010.2:c.170T>C, NM_001185010.2:c.170T>G, XM_047416062.1:c.170T>C, XM_047416062.1:c.170T>G, NP_002929.1:p.Val57Ala, NP_002929.1:p.Val57Gly, NP_001171938.1:p.Val57Ala, NP_001171938.1:p.Val57Gly, NP_001171939.1:p.Val57Ala, NP_001171939.1:p.Val57Gly, XP_047272018.1:p.Val57Ala, XP_047272018.1:p.Val57Gly

Select item 14483390409.

rs1448339040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:2497079 (GRCh38)
4:2498806 (GRCh37)
Canonical SPDI:: NC_000004.12:2497078:G:A
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.2497079G>A, NC_000004.11:g.2498806G>A, NM_002938.5:c.82G>A, NM_002938.4:c.82G>A, NM_001185009.3:c.82G>A, NM_001185009.2:c.82G>A, NM_001185010.3:c.82G>A, NM_001185010.2:c.82G>A, XM_047416062.1:c.82G>A, NP_002929.1:p.Glu28Lys, NP_001171938.1:p.Glu28Lys, NP_001171939.1:p.Glu28Lys, XP_047272018.1:p.Glu28Lys

Select item 144471842110.

rs1444718421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2497016 (GRCh38)
4:2498743 (GRCh37)
Canonical SPDI:: NC_000004.12:2497015:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.2497016C>T, NC_000004.11:g.2498743C>T, NM_002938.5:c.19C>T, NM_002938.4:c.19C>T, NM_001185009.3:c.19C>T, NM_001185009.2:c.19C>T, NM_001185010.3:c.19C>T, NM_001185010.2:c.19C>T, XM_047416062.1:c.19C>T, NP_002929.1:p.Arg7Cys, NP_001171938.1:p.Arg7Cys, NP_001171939.1:p.Arg7Cys, XP_047272018.1:p.Arg7Cys

Select item 144410808311.

rs1444108083 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2513685 (GRCh38)
4:2515412 (GRCh37)
Canonical SPDI:: NC_000004.12:2513684:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2513685C>T, NC_000004.11:g.2515412C>T, NM_002938.5:c.439C>T, NM_002938.4:c.439C>T, NM_001185009.3:c.439C>T, NM_001185009.2:c.439C>T, NM_001185010.3:c.279C>T, NM_001185010.2:c.279C>T, XM_047416062.1:c.439C>T, NP_002929.1:p.Arg147Cys, NP_001171938.1:p.Arg147Cys, XP_047272018.1:p.Arg147Cys

Select item 143613059312.

rs1436130593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2511956 (GRCh38)
4:2513683 (GRCh37)
Canonical SPDI:: NC_000004.12:2511955:A:G
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.2511956A>G, NC_000004.11:g.2513683A>G, NM_002938.5:c.205A>G, NM_002938.4:c.205A>G, NM_001185009.3:c.205A>G, NM_001185009.2:c.205A>G, NM_001185010.3:c.205A>G, NM_001185010.2:c.205A>G, XM_047416062.1:c.205A>G, NP_002929.1:p.Ile69Val, NP_001171938.1:p.Ile69Val, NP_001171939.1:p.Ile69Val, XP_047272018.1:p.Ile69Val

Select item 143003667513.

rs1430036675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:2497119 (GRCh38)
4:2498846 (GRCh37)
Canonical SPDI:: NC_000004.12:2497118:C:G
Gene:: RNF4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2497119C>G, NC_000004.11:g.2498846C>G, NM_002938.5:c.122C>G, NM_002938.4:c.122C>G, NM_001185009.3:c.122C>G, NM_001185009.2:c.122C>G, NM_001185010.3:c.122C>G, NM_001185010.2:c.122C>G, XM_047416062.1:c.122C>G, NP_002929.1:p.Thr41Ser, NP_001171938.1:p.Thr41Ser, NP_001171939.1:p.Thr41Ser, XP_047272018.1:p.Thr41Ser

Select item 142843408514.

rs1428434085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2497024 (GRCh38)
4:2498751 (GRCh37)
Canonical SPDI:: NC_000004.12:2497023:A:G
Gene:: RNF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2497024A>G, NC_000004.11:g.2498751A>G, NM_002938.5:c.27A>G, NM_002938.4:c.27A>G, NM_001185009.3:c.27A>G, NM_001185009.2:c.27A>G, NM_001185010.3:c.27A>G, NM_001185010.2:c.27A>G, XM_047416062.1:c.27A>G

Select item 142626434015.

rs1426264340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:2500669 (GRCh38)
4:2502396 (GRCh37)
Canonical SPDI:: NC_000004.12:2500668:A:G
Gene:: RNF4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.2500669A>G, NC_000004.11:g.2502396A>G, NM_002938.5:c.135A>G, NM_002938.4:c.135A>G, NM_001185009.3:c.135A>G, NM_001185009.2:c.135A>G, NM_001185010.3:c.135A>G, NM_001185010.2:c.135A>G, XM_047416062.1:c.135A>G

Select item 141026784316.

rs1410267843 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:2500691 (GRCh38)
4:2502418 (GRCh37)
Canonical SPDI:: NC_000004.12:2500690:T:C
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2500691T>C, NC_000004.11:g.2502418T>C, NM_002938.5:c.157T>C, NM_002938.4:c.157T>C, NM_001185009.3:c.157T>C, NM_001185009.2:c.157T>C, NM_001185010.3:c.157T>C, NM_001185010.2:c.157T>C, XM_047416062.1:c.157T>C, NP_002929.1:p.Ser53Pro, NP_001171938.1:p.Ser53Pro, NP_001171939.1:p.Ser53Pro, XP_047272018.1:p.Ser53Pro

Select item 140578511317.

rs1405785113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:2497102 (GRCh38)
4:2498829 (GRCh37)
Canonical SPDI:: NC_000004.12:2497101:C:G,NC_000004.12:2497101:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.2497102C>G, NC_000004.12:g.2497102C>T, NC_000004.11:g.2498829C>G, NC_000004.11:g.2498829C>T, NM_002938.5:c.105C>G, NM_002938.5:c.105C>T, NM_002938.4:c.105C>G, NM_002938.4:c.105C>T, NM_001185009.3:c.105C>G, NM_001185009.3:c.105C>T, NM_001185009.2:c.105C>G, NM_001185009.2:c.105C>T, NM_001185010.3:c.105C>G, NM_001185010.3:c.105C>T, NM_001185010.2:c.105C>G, NM_001185010.2:c.105C>T, XM_047416062.1:c.105C>G, XM_047416062.1:c.105C>T

Select item 140546285318.

rs1405462853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:2512473 (GRCh38)
4:2514200 (GRCh37)
Canonical SPDI:: NC_000004.12:2512472:C:T
Gene:: RNF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2512473C>T, NC_000004.11:g.2514200C>T, NM_002938.5:c.250C>T, NM_002938.4:c.250C>T, NM_001185009.3:c.250C>T, NM_001185009.2:c.250C>T, XM_047416062.1:c.250C>T, NP_002929.1:p.Pro84Ser, NP_001171938.1:p.Pro84Ser, XP_047272018.1:p.Pro84Ser

Select item 140279437019.

rs1402794370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:2512585 (GRCh38)
4:2514312 (GRCh37)
Canonical SPDI:: NC_000004.12:2512584:C:G
Gene:: RNF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2512585C>G, NC_000004.11:g.2514312C>G, NM_002938.5:c.362C>G, NM_002938.4:c.362C>G, NM_001185009.3:c.362C>G, NM_001185009.2:c.362C>G, XM_047416062.1:c.362C>G, NP_002929.1:p.Ala121Gly, NP_001171938.1:p.Ala121Gly, XP_047272018.1:p.Ala121Gly

Select item 140095254920.

rs1400952549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:2513757 (GRCh38)
4:2515484 (GRCh37)
Canonical SPDI:: NC_000004.12:2513756:A:C
Gene:: RNF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.2513757A>C, NC_000004.11:g.2515484A>C, NM_002938.5:c.511A>C, NM_002938.4:c.511A>C, NM_001185009.3:c.511A>C, NM_001185009.2:c.511A>C, NM_001185010.3:c.*9A>C, NM_001185010.2:c.*9A>C, XM_047416062.1:c.511A>C, NP_002929.1:p.Asn171His, NP_001171938.1:p.Asn171His, XP_047272018.1:p.Asn171His

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