SNP Links for Protein (Select 5453808) - SNP

Links from Protein

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Select item 14889116531.

rs1488911653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49061454 (GRCh38)
19:49564711 (GRCh37)
Canonical SPDI:: NC_000019.10:49061453:C:T
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000031/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061454C>T, NC_000019.9:g.49564711C>T, NG_016289.1:g.7414G>A, NM_006179.5:c.544G>A, NM_006179.4:c.544G>A, NM_001395489.1:c.544G>A, XM_011527009.3:c.544G>A, XM_011527009.2:c.544G>A, XM_011527009.1:c.544G>A, XM_011527008.3:c.574G>A, XM_011527008.2:c.574G>A, XM_011527008.1:c.574G>A, XM_047438892.1:c.544G>A, XM_047438891.1:c.544G>A, XR_001753694.1:n.589G>A, XR_001753693.1:n.589G>A, NP_006170.1:p.Ala182Thr, NP_001382418.1:p.Ala182Thr, XP_011525311.1:p.Ala182Thr, XP_011525310.1:p.Ala192Thr, XP_047294848.1:p.Ala182Thr, XP_047294847.1:p.Ala182Thr

Select item 14875829322.

rs1487582932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49061592 (GRCh38)
19:49564849 (GRCh37)
Canonical SPDI:: NC_000019.10:49061591:A:C,NC_000019.10:49061591:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49061592A>C, NC_000019.10:g.49061592A>G, NC_000019.9:g.49564849A>C, NC_000019.9:g.49564849A>G, NG_016289.1:g.7276T>G, NG_016289.1:g.7276T>C, NM_006179.5:c.406T>G, NM_006179.5:c.406T>C, NM_006179.4:c.406T>G, NM_006179.4:c.406T>C, NM_001395489.1:c.406T>G, NM_001395489.1:c.406T>C, XM_011527009.3:c.406T>G, XM_011527009.3:c.406T>C, XM_011527009.2:c.406T>G, XM_011527009.2:c.406T>C, XM_011527009.1:c.406T>G, XM_011527009.1:c.406T>C, XM_011527008.3:c.436T>G, XM_011527008.3:c.436T>C, XM_011527008.2:c.436T>G, XM_011527008.2:c.436T>C, XM_011527008.1:c.436T>G, XM_011527008.1:c.436T>C, XM_047438892.1:c.406T>G, XM_047438892.1:c.406T>C, XM_047438891.1:c.406T>G, XM_047438891.1:c.406T>C, XR_001753694.1:n.451T>G, XR_001753694.1:n.451T>C, XR_001753693.1:n.451T>G, XR_001753693.1:n.451T>C, NP_006170.1:p.Phe136Val, NP_006170.1:p.Phe136Leu, NP_001382418.1:p.Phe136Val, NP_001382418.1:p.Phe136Leu, XP_011525311.1:p.Phe136Val, XP_011525311.1:p.Phe136Leu, XP_011525310.1:p.Phe146Val, XP_011525310.1:p.Phe146Leu, XP_047294848.1:p.Phe136Val, XP_047294848.1:p.Phe136Leu, XP_047294847.1:p.Phe136Val, XP_047294847.1:p.Phe136Leu

Select item 14822457543.

rs1482245754 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCT [Show Flanks]
Chromosome:: 19:49061731 (GRCh38)
19:49564989 (GRCh37)
Canonical SPDI:: NC_000019.10:49061731:CTCGCT:CTCGCTCGCT
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTCGCTCGCT=0.000111/1 (ALFA)
CTCG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061734_49061737dup, NC_000019.9:g.49564991_49564994dup, NG_016289.1:g.7133_7136dup, NM_006179.5:c.263_266dup, NM_006179.4:c.263_266dup, NM_001395489.1:c.263_266dup, XM_011527009.3:c.263_266dup, XM_011527009.2:c.263_266dup, XM_011527009.1:c.263_266dup, XM_011527008.3:c.293_296dup, XM_011527008.2:c.293_296dup, XM_011527008.1:c.293_296dup, XM_047438892.1:c.263_266dup, XM_047438891.1:c.263_266dup, XR_001753694.1:n.308_311dup, XR_001753693.1:n.308_311dup, NP_006170.1:p.Arg90fs, NP_001382418.1:p.Arg90fs, XP_011525311.1:p.Arg90fs, XP_011525310.1:p.Arg100fs, XP_047294848.1:p.Arg90fs, XP_047294847.1:p.Arg90fs

Select item 14814846474.

rs1481484647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49061460 (GRCh38)
19:49564717 (GRCh37)
Canonical SPDI:: NC_000019.10:49061459:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49061460A>G, NC_000019.9:g.49564717A>G, NG_016289.1:g.7408T>C, NM_006179.5:c.538T>C, NM_006179.4:c.538T>C, NM_001395489.1:c.538T>C, XM_011527009.3:c.538T>C, XM_011527009.2:c.538T>C, XM_011527009.1:c.538T>C, XM_011527008.3:c.568T>C, XM_011527008.2:c.568T>C, XM_011527008.1:c.568T>C, XM_047438892.1:c.538T>C, XM_047438891.1:c.538T>C, XR_001753694.1:n.583T>C, XR_001753693.1:n.583T>C

Select item 14782174575.

rs1478217457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061991 (GRCh38)
19:49565248 (GRCh37)
Canonical SPDI:: NC_000019.10:49061990:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49061991G>A, NC_000019.9:g.49565248G>A, NG_016289.1:g.6877C>T, NM_006179.5:c.7C>T, NM_006179.4:c.7C>T, NM_001395489.1:c.7C>T, XM_011527009.3:c.7C>T, XM_011527009.2:c.7C>T, XM_011527009.1:c.7C>T, XM_011527008.3:c.37C>T, XM_011527008.2:c.37C>T, XM_011527008.1:c.37C>T, XM_047438892.1:c.7C>T, XM_047438891.1:c.7C>T, XR_001753694.1:n.52C>T, XR_001753693.1:n.52C>T, NP_006170.1:p.Pro3Ser, NP_001382418.1:p.Pro3Ser, XP_011525311.1:p.Pro3Ser, XP_011525310.1:p.Pro13Ser, XP_047294848.1:p.Pro3Ser, XP_047294847.1:p.Pro3Ser

Select item 14727329276.

rs1472732927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061922 (GRCh38)
19:49565179 (GRCh37)
Canonical SPDI:: NC_000019.10:49061921:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061922G>A, NC_000019.9:g.49565179G>A, NG_016289.1:g.6946C>T, NM_006179.5:c.76C>T, NM_006179.4:c.76C>T, NM_001395489.1:c.76C>T, XM_011527009.3:c.76C>T, XM_011527009.2:c.76C>T, XM_011527009.1:c.76C>T, XM_011527008.3:c.106C>T, XM_011527008.2:c.106C>T, XM_011527008.1:c.106C>T, XM_047438892.1:c.76C>T, XM_047438891.1:c.76C>T, XR_001753694.1:n.121C>T, XR_001753693.1:n.121C>T, NP_006170.1:p.Pro26Ser, NP_001382418.1:p.Pro26Ser, XP_011525311.1:p.Pro26Ser, XP_011525310.1:p.Pro36Ser, XP_047294848.1:p.Pro26Ser, XP_047294847.1:p.Pro26Ser

Select item 14691174617.

rs1469117461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061823 (GRCh38)
19:49565080 (GRCh37)
Canonical SPDI:: NC_000019.10:49061822:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000019.10:g.49061823G>A, NC_000019.9:g.49565080G>A, NG_016289.1:g.7045C>T, NM_006179.5:c.175C>T, NM_006179.4:c.175C>T, NM_001395489.1:c.175C>T, XM_011527009.3:c.175C>T, XM_011527009.2:c.175C>T, XM_011527009.1:c.175C>T, XM_011527008.3:c.205C>T, XM_011527008.2:c.205C>T, XM_011527008.1:c.205C>T, XM_047438892.1:c.175C>T, XM_047438891.1:c.175C>T, XR_001753694.1:n.220C>T, XR_001753693.1:n.220C>T, NP_006170.1:p.Leu59Phe, NP_001382418.1:p.Leu59Phe, XP_011525311.1:p.Leu59Phe, XP_011525310.1:p.Leu69Phe, XP_047294848.1:p.Leu59Phe, XP_047294847.1:p.Leu59Phe

Select item 14661953718.

rs1466195371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49061935 (GRCh38)
19:49565192 (GRCh37)
Canonical SPDI:: NC_000019.10:49061934:T:C
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061935T>C, NC_000019.9:g.49565192T>C, NG_016289.1:g.6933A>G, NM_006179.5:c.63A>G, NM_006179.4:c.63A>G, NM_001395489.1:c.63A>G, XM_011527009.3:c.63A>G, XM_011527009.2:c.63A>G, XM_011527009.1:c.63A>G, XM_011527008.3:c.93A>G, XM_011527008.2:c.93A>G, XM_011527008.1:c.93A>G, XM_047438892.1:c.63A>G, XM_047438891.1:c.63A>G, XR_001753694.1:n.108A>G, XR_001753693.1:n.108A>G

Select item 14658256539.

rs1465825653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49061474 (GRCh38)
19:49564731 (GRCh37)
Canonical SPDI:: NC_000019.10:49061473:G:T
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49061474G>T, NC_000019.9:g.49564731G>T, NG_016289.1:g.7394C>A, NM_006179.5:c.524C>A, NM_006179.4:c.524C>A, NM_001395489.1:c.524C>A, XM_011527009.3:c.524C>A, XM_011527009.2:c.524C>A, XM_011527009.1:c.524C>A, XM_011527008.3:c.554C>A, XM_011527008.2:c.554C>A, XM_011527008.1:c.554C>A, XM_047438892.1:c.524C>A, XM_047438891.1:c.524C>A, XR_001753694.1:n.569C>A, XR_001753693.1:n.569C>A, NP_006170.1:p.Ser175Tyr, NP_001382418.1:p.Ser175Tyr, XP_011525311.1:p.Ser175Tyr, XP_011525310.1:p.Ser185Tyr, XP_047294848.1:p.Ser175Tyr, XP_047294847.1:p.Ser175Tyr

Select item 146346158910.

rs1463461589 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49061660 (GRCh38)
19:49564917 (GRCh37)
Canonical SPDI:: NC_000019.10:49061659:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49061660A>G, NC_000019.9:g.49564917A>G, NG_016289.1:g.7208T>C, NM_006179.5:c.338T>C, NM_006179.4:c.338T>C, NM_001395489.1:c.338T>C, XM_011527009.3:c.338T>C, XM_011527009.2:c.338T>C, XM_011527009.1:c.338T>C, XM_011527008.3:c.368T>C, XM_011527008.2:c.368T>C, XM_011527008.1:c.368T>C, XM_047438892.1:c.338T>C, XM_047438891.1:c.338T>C, XR_001753694.1:n.383T>C, XR_001753693.1:n.383T>C, NP_006170.1:p.Leu113Ser, NP_001382418.1:p.Leu113Ser, XP_011525311.1:p.Leu113Ser, XP_011525310.1:p.Leu123Ser, XP_047294848.1:p.Leu113Ser, XP_047294847.1:p.Leu113Ser

Select item 146112123611.

rs1461121236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:49061932 (GRCh38)
19:49565189 (GRCh37)
Canonical SPDI:: NC_000019.10:49061931:A:C,NC_000019.10:49061931:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.49061932A>C, NC_000019.10:g.49061932A>G, NC_000019.9:g.49565189A>C, NC_000019.9:g.49565189A>G, NG_016289.1:g.6936T>G, NG_016289.1:g.6936T>C, NM_006179.5:c.66T>G, NM_006179.5:c.66T>C, NM_006179.4:c.66T>G, NM_006179.4:c.66T>C, NM_001395489.1:c.66T>G, NM_001395489.1:c.66T>C, XM_011527009.3:c.66T>G, XM_011527009.3:c.66T>C, XM_011527009.2:c.66T>G, XM_011527009.2:c.66T>C, XM_011527009.1:c.66T>G, XM_011527009.1:c.66T>C, XM_011527008.3:c.96T>G, XM_011527008.3:c.96T>C, XM_011527008.2:c.96T>G, XM_011527008.2:c.96T>C, XM_011527008.1:c.96T>G, XM_011527008.1:c.96T>C, XM_047438892.1:c.66T>G, XM_047438892.1:c.66T>C, XM_047438891.1:c.66T>G, XM_047438891.1:c.66T>C, XR_001753694.1:n.111T>G, XR_001753694.1:n.111T>C, XR_001753693.1:n.111T>G, XR_001753693.1:n.111T>C, NP_006170.1:p.Ile22Met, NP_001382418.1:p.Ile22Met, XP_011525311.1:p.Ile22Met, XP_011525310.1:p.Ile32Met, XP_047294848.1:p.Ile22Met, XP_047294847.1:p.Ile22Met

Select item 146053342412.

rs1460533424 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:49061373 (GRCh38)
19:49564630 (GRCh37)
Canonical SPDI:: NC_000019.10:49061372:GG:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49061374del, NC_000019.9:g.49564631del, NG_016289.1:g.7495del, NM_006179.5:c.625del, NM_006179.4:c.625del, NM_001395489.1:c.625del, XM_011527009.3:c.625del, XM_011527009.2:c.625del, XM_011527009.1:c.625del, XM_011527008.3:c.655del, XM_011527008.2:c.655del, XM_011527008.1:c.655del, XM_047438892.1:c.625del, XM_047438891.1:c.625del, XR_001753694.1:n.670del, XR_001753693.1:n.670del, NP_006170.1:p.Arg209fs, NP_001382418.1:p.Arg209fs, XP_011525311.1:p.Arg209fs, XP_011525310.1:p.Arg219fs, XP_047294848.1:p.Arg209fs, XP_047294847.1:p.Arg209fs

Select item 145804778513.

rs1458047785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49061552 (GRCh38)
19:49564809 (GRCh37)
Canonical SPDI:: NC_000019.10:49061551:C:T
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49061552C>T, NC_000019.9:g.49564809C>T, NG_016289.1:g.7316G>A, NM_006179.5:c.446G>A, NM_006179.4:c.446G>A, NM_001395489.1:c.446G>A, XM_011527009.3:c.446G>A, XM_011527009.2:c.446G>A, XM_011527009.1:c.446G>A, XM_011527008.3:c.476G>A, XM_011527008.2:c.476G>A, XM_011527008.1:c.476G>A, XM_047438892.1:c.446G>A, XM_047438891.1:c.446G>A, XR_001753694.1:n.491G>A, XR_001753693.1:n.491G>A, NP_006170.1:p.Gly149Asp, NP_001382418.1:p.Gly149Asp, XP_011525311.1:p.Gly149Asp, XP_011525310.1:p.Gly159Asp, XP_047294848.1:p.Gly149Asp, XP_047294847.1:p.Gly149Asp

Select item 145171561314.

rs1451715613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061828 (GRCh38)
19:49565085 (GRCh37)
Canonical SPDI:: NC_000019.10:49061827:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061828G>A, NC_000019.9:g.49565085G>A, NG_016289.1:g.7040C>T, NM_006179.5:c.170C>T, NM_006179.4:c.170C>T, NM_001395489.1:c.170C>T, XM_011527009.3:c.170C>T, XM_011527009.2:c.170C>T, XM_011527009.1:c.170C>T, XM_011527008.3:c.200C>T, XM_011527008.2:c.200C>T, XM_011527008.1:c.200C>T, XM_047438892.1:c.170C>T, XM_047438891.1:c.170C>T, XR_001753694.1:n.215C>T, XR_001753693.1:n.215C>T, NP_006170.1:p.Pro57Leu, NP_001382418.1:p.Pro57Leu, XP_011525311.1:p.Pro57Leu, XP_011525310.1:p.Pro67Leu, XP_047294848.1:p.Pro57Leu, XP_047294847.1:p.Pro57Leu

Select item 144770886815.

rs1447708868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49061860 (GRCh38)
19:49565117 (GRCh37)
Canonical SPDI:: NC_000019.10:49061859:T:C
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061860T>C, NC_000019.9:g.49565117T>C, NG_016289.1:g.7008A>G, NM_006179.5:c.138A>G, NM_006179.4:c.138A>G, NM_001395489.1:c.138A>G, XM_011527009.3:c.138A>G, XM_011527009.2:c.138A>G, XM_011527009.1:c.138A>G, XM_011527008.3:c.168A>G, XM_011527008.2:c.168A>G, XM_011527008.1:c.168A>G, XM_047438892.1:c.138A>G, XM_047438891.1:c.138A>G, XR_001753694.1:n.183A>G, XR_001753693.1:n.183A>G

Select item 144532882816.

rs1445328828 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTTGGG>- [Show Flanks]
Chromosome:: 19:49061921 (GRCh38)
19:49565178 (GRCh37)
Canonical SPDI:: NC_000019.10:49061916:TGGGGGTTGGG:TGGG
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49061921_49061927del, NC_000019.9:g.49565178_49565184del, NG_016289.1:g.6945_6951del, NM_006179.5:c.75_81del, NM_006179.4:c.75_81del, NM_001395489.1:c.75_81del, XM_011527009.3:c.75_81del, XM_011527009.2:c.75_81del, XM_011527009.1:c.75_81del, XM_011527008.3:c.105_111del, XM_011527008.2:c.105_111del, XM_011527008.1:c.105_111del, XM_047438892.1:c.75_81del, XM_047438891.1:c.75_81del, XR_001753694.1:n.120_126del, XR_001753693.1:n.120_126del, NP_006170.1:p.Gln25fs, NP_001382418.1:p.Gln25fs, XP_011525311.1:p.Gln25fs, XP_011525310.1:p.Gln35fs, XP_047294848.1:p.Gln25fs, XP_047294847.1:p.Gln25fs

Select item 144367701617.

rs1443677016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49061782 (GRCh38)
19:49565039 (GRCh37)
Canonical SPDI:: NC_000019.10:49061781:A:G
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49061782A>G, NC_000019.9:g.49565039A>G, NG_016289.1:g.7086T>C, NM_006179.5:c.216T>C, NM_006179.4:c.216T>C, NM_001395489.1:c.216T>C, XM_011527009.3:c.216T>C, XM_011527009.2:c.216T>C, XM_011527009.1:c.216T>C, XM_011527008.3:c.246T>C, XM_011527008.2:c.246T>C, XM_011527008.1:c.246T>C, XM_047438892.1:c.216T>C, XM_047438891.1:c.216T>C, XR_001753694.1:n.261T>C, XR_001753693.1:n.261T>C

Select item 144236136918.

rs1442361369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:49061984 (GRCh38)
19:49565241 (GRCh37)
Canonical SPDI:: NC_000019.10:49061983:G:A,NC_000019.10:49061983:G:T
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061984G>A, NC_000019.10:g.49061984G>T, NC_000019.9:g.49565241G>A, NC_000019.9:g.49565241G>T, NG_016289.1:g.6884C>T, NG_016289.1:g.6884C>A, NM_006179.5:c.14C>T, NM_006179.5:c.14C>A, NM_006179.4:c.14C>T, NM_006179.4:c.14C>A, NM_001395489.1:c.14C>T, NM_001395489.1:c.14C>A, XM_011527009.3:c.14C>T, XM_011527009.3:c.14C>A, XM_011527009.2:c.14C>T, XM_011527009.2:c.14C>A, XM_011527009.1:c.14C>T, XM_011527009.1:c.14C>A, XM_011527008.3:c.44C>T, XM_011527008.3:c.44C>A, XM_011527008.2:c.44C>T, XM_011527008.2:c.44C>A, XM_011527008.1:c.44C>T, XM_011527008.1:c.44C>A, XM_047438892.1:c.14C>T, XM_047438892.1:c.14C>A, XM_047438891.1:c.14C>T, XM_047438891.1:c.14C>A, XR_001753694.1:n.59C>T, XR_001753694.1:n.59C>A, XR_001753693.1:n.59C>T, XR_001753693.1:n.59C>A, NP_006170.1:p.Pro5Leu, NP_006170.1:p.Pro5His, NP_001382418.1:p.Pro5Leu, NP_001382418.1:p.Pro5His, XP_011525311.1:p.Pro5Leu, XP_011525311.1:p.Pro5His, XP_011525310.1:p.Pro15Leu, XP_011525310.1:p.Pro15His, XP_047294848.1:p.Pro5Leu, XP_047294848.1:p.Pro5His, XP_047294847.1:p.Pro5Leu, XP_047294847.1:p.Pro5His

Select item 143926390419.

rs1439263904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061605 (GRCh38)
19:49564862 (GRCh37)
Canonical SPDI:: NC_000019.10:49061604:G:A
Gene:: NTF4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061605G>A, NC_000019.9:g.49564862G>A, NG_016289.1:g.7263C>T, NM_006179.5:c.393C>T, NM_006179.4:c.393C>T, NM_001395489.1:c.393C>T, XM_011527009.3:c.393C>T, XM_011527009.2:c.393C>T, XM_011527009.1:c.393C>T, XM_011527008.3:c.423C>T, XM_011527008.2:c.423C>T, XM_011527008.1:c.423C>T, XM_047438892.1:c.393C>T, XM_047438891.1:c.393C>T, XR_001753694.1:n.438C>T, XR_001753693.1:n.438C>T

Select item 142640520120.

rs1426405201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49061986 (GRCh38)
19:49565243 (GRCh37)
Canonical SPDI:: NC_000019.10:49061985:G:A
Gene:: NTF4 (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=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49061986G>A, NC_000019.9:g.49565243G>A, NG_016289.1:g.6882C>T, NM_006179.5:c.12C>T, NM_006179.4:c.12C>T, NM_001395489.1:c.12C>T, XM_011527009.3:c.12C>T, XM_011527009.2:c.12C>T, XM_011527009.1:c.12C>T, XM_011527008.3:c.42C>T, XM_011527008.2:c.42C>T, XM_011527008.1:c.42C>T, XM_047438892.1:c.12C>T, XM_047438891.1:c.12C>T, XR_001753694.1:n.57C>T, XR_001753693.1:n.57C>T

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