SNP Links for Protein (Select 1092878822) - SNP

Links from Protein

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Select item 14894457941.

rs1489445794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:31528447 (GRCh38)
17:29855465 (GRCh37)
Canonical SPDI:: NC_000017.11:31528446:G:A,NC_000017.11:31528446:G:T
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31528447G>A, NC_000017.11:g.31528447G>T, NC_000017.10:g.29855465G>A, NC_000017.10:g.29855465G>T, NG_051977.1:g.141824G>A, NG_051977.1:g.141824G>T, NM_032932.6:c.1398G>A, NM_032932.6:c.1398G>T, NM_032932.5:c.1398G>A, NM_032932.5:c.1398G>T, NM_032932.4:c.1398G>A, NM_032932.4:c.1398G>T, NM_032932.3:c.1398G>A, NM_032932.3:c.1398G>T, NM_001303542.3:c.1092G>A, NM_001303542.3:c.1092G>T, NM_001303542.2:c.1092G>A, NM_001303542.2:c.1092G>T, NM_001303542.1:c.1308G>A, NM_001303542.1:c.1308G>T, NM_001346748.2:c.975G>A, NM_001346748.2:c.975G>T, NM_001346748.1:c.975G>A, NM_001346748.1:c.975G>T, NM_001346747.2:c.897G>A, NM_001346747.2:c.897G>T, NM_001346747.1:c.897G>A, NM_001346747.1:c.897G>T, NM_001346749.2:c.618G>A, NM_001346749.2:c.618G>T, NM_001346749.1:c.618G>A, NM_001346749.1:c.618G>T

Select item 14893733742.

rs1489373374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:31531654 (GRCh38)
17:29858672 (GRCh37)
Canonical SPDI:: NC_000017.11:31531653:C:G
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31531654C>G, NC_000017.10:g.29858672C>G, NG_051977.1:g.145031C>G, NM_032932.6:c.1836C>G, NM_032932.5:c.1836C>G, NM_032932.4:c.1836C>G, NM_032932.3:c.1836C>G, NM_001303542.3:c.1530C>G, NM_001303542.2:c.1530C>G, NM_001303542.1:c.1746C>G, NM_001346748.2:c.1413C>G, NM_001346748.1:c.1413C>G, NM_001346747.2:c.1335C>G, NM_001346747.1:c.1335C>G, NM_001346749.2:c.1056C>G, NM_001346749.1:c.1056C>G, NP_116321.2:p.Phe612Leu, NP_001290471.2:p.Phe510Leu, NP_001333677.1:p.Phe471Leu, NP_001333676.1:p.Phe445Leu, NP_001333678.1:p.Phe352Leu

Select item 14884655073.

rs1488465507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:31528760 (GRCh38)
17:29855778 (GRCh37)
Canonical SPDI:: NC_000017.11:31528759:G:C
Gene:: RAB11FIP4 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31528760G>C, NC_000017.10:g.29855778G>C, NG_051977.1:g.142137G>C, NM_032932.6:c.1635G>C, NM_032932.5:c.1635G>C, NM_032932.4:c.1635G>C, NM_032932.3:c.1635G>C, NM_001303542.3:c.1329G>C, NM_001303542.2:c.1329G>C, NM_001303542.1:c.1545G>C, NM_001346748.2:c.1212G>C, NM_001346748.1:c.1212G>C, NM_001346747.2:c.1134G>C, NM_001346747.1:c.1134G>C, NM_001346749.2:c.855G>C, NM_001346749.1:c.855G>C, NP_116321.2:p.Glu545Asp, NP_001290471.2:p.Glu443Asp, NP_001333677.1:p.Glu404Asp, NP_001333676.1:p.Glu378Asp, NP_001333678.1:p.Glu285Asp

Select item 14869807244.

rs1486980724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31530445 (GRCh38)
17:29857463 (GRCh37)
Canonical SPDI:: NC_000017.11:31530444:G:A
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.31530445G>A, NC_000017.10:g.29857463G>A, NG_051977.1:g.143822G>A, NM_032932.6:c.1773G>A, NM_032932.5:c.1773G>A, NM_032932.4:c.1773G>A, NM_032932.3:c.1773G>A, NM_001303542.3:c.1467G>A, NM_001303542.2:c.1467G>A, NM_001303542.1:c.1683G>A, NM_001346748.2:c.1350G>A, NM_001346748.1:c.1350G>A, NM_001346747.2:c.1272G>A, NM_001346747.1:c.1272G>A, NM_001346749.2:c.993G>A, NM_001346749.1:c.993G>A

Select item 14862302665.

rs1486230266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31523913 (GRCh38)
17:29850931 (GRCh37)
Canonical SPDI:: NC_000017.11:31523912:G:A
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31523913G>A, NC_000017.10:g.29850931G>A, NG_051977.1:g.137290G>A, NM_032932.6:c.1050G>A, NM_032932.5:c.1050G>A, NM_032932.4:c.1050G>A, NM_032932.3:c.1050G>A, NM_001303542.3:c.744G>A, NM_001303542.2:c.744G>A, NM_001303542.1:c.960G>A, NM_001346748.2:c.627G>A, NM_001346748.1:c.627G>A, NM_001346747.2:c.549G>A, NM_001346747.1:c.549G>A, NM_001346749.2:c.270G>A, NM_001346749.1:c.270G>A

Select item 14781572606.

rs1478157260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:31517859 (GRCh38)
17:29844877 (GRCh37)
Canonical SPDI:: NC_000017.11:31517858:T:C,NC_000017.11:31517858:T:G
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31517859T>C, NC_000017.11:g.31517859T>G, NC_000017.10:g.29844877T>C, NC_000017.10:g.29844877T>G, NG_051977.1:g.131236T>C, NG_051977.1:g.131236T>G, NM_032932.6:c.545T>C, NM_032932.6:c.545T>G, NM_032932.5:c.545T>C, NM_032932.5:c.545T>G, NM_032932.4:c.545T>C, NM_032932.4:c.545T>G, NM_032932.3:c.545T>C, NM_032932.3:c.545T>G, NM_001303542.3:c.239T>C, NM_001303542.3:c.239T>G, NM_001303542.2:c.239T>C, NM_001303542.2:c.239T>G, NM_001303542.1:c.455T>C, NM_001303542.1:c.455T>G, NM_001346748.2:c.122T>C, NM_001346748.2:c.122T>G, NM_001346748.1:c.122T>C, NM_001346748.1:c.122T>G, NM_001346747.2:c.239T>C, NM_001346747.2:c.239T>G, NM_001346747.1:c.239T>C, NM_001346747.1:c.239T>G, NP_116321.2:p.Leu182Pro, NP_116321.2:p.Leu182Arg, NP_001290471.2:p.Leu80Pro, NP_001290471.2:p.Leu80Arg, NP_001333677.1:p.Leu41Pro, NP_001333677.1:p.Leu41Arg, NP_001333676.1:p.Leu80Pro, NP_001333676.1:p.Leu80Arg

Select item 14755330647.

rs1475533064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31523528 (GRCh38)
17:29850546 (GRCh37)
Canonical SPDI:: NC_000017.11:31523527:A:G
Gene:: RAB11FIP4 (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)
HGVS:: NC_000017.11:g.31523528A>G, NC_000017.10:g.29850546A>G, NG_051977.1:g.136905A>G, NM_032932.6:c.946A>G, NM_032932.5:c.946A>G, NM_032932.4:c.946A>G, NM_032932.3:c.946A>G, NM_001303542.3:c.640A>G, NM_001303542.2:c.640A>G, NM_001303542.1:c.856A>G, NM_001346748.2:c.523A>G, NM_001346748.1:c.523A>G, NM_001346747.2:c.445A>G, NM_001346747.1:c.445A>G, NM_001346749.2:c.166A>G, NM_001346749.1:c.166A>G, NP_116321.2:p.Ser316Gly, NP_001290471.2:p.Ser214Gly, NP_001333677.1:p.Ser175Gly, NP_001333676.1:p.Ser149Gly, NP_001333678.1:p.Ser56Gly

Select item 14747194388.

rs1474719438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31531618 (GRCh38)
17:29858636 (GRCh37)
Canonical SPDI:: NC_000017.11:31531617:A:G
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000017.11:g.31531618A>G, NC_000017.10:g.29858636A>G, NG_051977.1:g.144995A>G, NM_032932.6:c.1800A>G, NM_032932.5:c.1800A>G, NM_032932.4:c.1800A>G, NM_032932.3:c.1800A>G, NM_001303542.3:c.1494A>G, NM_001303542.2:c.1494A>G, NM_001303542.1:c.1710A>G, NM_001346748.2:c.1377A>G, NM_001346748.1:c.1377A>G, NM_001346747.2:c.1299A>G, NM_001346747.1:c.1299A>G, NM_001346749.2:c.1020A>G, NM_001346749.1:c.1020A>G

Select item 14724228949.

rs1472422894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:31517716 (GRCh38)
17:29844735 (GRCh37)
Canonical SPDI:: NC_000017.11:31517716:CCC:CCCC
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0.00007/1 (ALFA)
C=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.31517719dup, NC_000017.10:g.29844737dup, NG_051977.1:g.131096dup, NM_032932.6:c.405dup, NM_032932.5:c.405dup, NM_032932.4:c.405dup, NM_032932.3:c.405dup, NM_001303542.3:c.99dup, NM_001303542.2:c.99dup, NM_001303542.1:c.315dup, NM_001346748.2:c.-19dup, NM_001346748.1:c.-19dup, NM_001346747.2:c.99dup, NM_001346747.1:c.99dup, NP_116321.2:p.Glu136fs, NP_001290471.2:p.Glu34fs, NP_001333676.1:p.Glu34fs

Select item 147001672910.

rs1470016729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31522011 (GRCh38)
17:29849029 (GRCh37)
Canonical SPDI:: NC_000017.11:31522010:T:C
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.31522011T>C, NC_000017.10:g.29849029T>C, NG_051977.1:g.135388T>C, NM_032932.6:c.855T>C, NM_032932.5:c.855T>C, NM_032932.4:c.855T>C, NM_032932.3:c.855T>C, NM_001303542.3:c.549T>C, NM_001303542.2:c.549T>C, NM_001303542.1:c.765T>C, NM_001346748.2:c.432T>C, NM_001346748.1:c.432T>C, NM_001346747.2:c.354T>C, NM_001346747.1:c.354T>C, NM_001346749.2:c.75T>C, NM_001346749.1:c.75T>C

Select item 146719226711.

rs1467192267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31530441 (GRCh38)
17:29857459 (GRCh37)
Canonical SPDI:: NC_000017.11:31530440:C:T
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.31530441C>T, NC_000017.10:g.29857459C>T, NG_051977.1:g.143818C>T, NM_032932.6:c.1769C>T, NM_032932.5:c.1769C>T, NM_032932.4:c.1769C>T, NM_032932.3:c.1769C>T, NM_001303542.3:c.1463C>T, NM_001303542.2:c.1463C>T, NM_001303542.1:c.1679C>T, NM_001346748.2:c.1346C>T, NM_001346748.1:c.1346C>T, NM_001346747.2:c.1268C>T, NM_001346747.1:c.1268C>T, NM_001346749.2:c.989C>T, NM_001346749.1:c.989C>T, NP_116321.2:p.Ala590Val, NP_001290471.2:p.Ala488Val, NP_001333677.1:p.Ala449Val, NP_001333676.1:p.Ala423Val, NP_001333678.1:p.Ala330Val

Select item 146552967312.

rs1465529673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31517710 (GRCh38)
17:29844728 (GRCh37)
Canonical SPDI:: NC_000017.11:31517709:C:T
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.31517710C>T, NC_000017.10:g.29844728C>T, NG_051977.1:g.131087C>T, NM_032932.6:c.396C>T, NM_032932.5:c.396C>T, NM_032932.4:c.396C>T, NM_032932.3:c.396C>T, NM_001303542.3:c.90C>T, NM_001303542.2:c.90C>T, NM_001303542.1:c.306C>T, NM_001346748.2:c.-28C>T, NM_001346748.1:c.-28C>T, NM_001346747.2:c.90C>T, NM_001346747.1:c.90C>T

Select item 146107332013.

rs1461073320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31525206 (GRCh38)
17:29852224 (GRCh37)
Canonical SPDI:: NC_000017.11:31525205:C:T
Gene:: RAB11FIP4 (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=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.31525206C>T, NC_000017.10:g.29852224C>T, NG_051977.1:g.138583C>T, NM_032932.6:c.1250C>T, NM_032932.5:c.1250C>T, NM_032932.4:c.1250C>T, NM_032932.3:c.1250C>T, NM_001303542.3:c.944C>T, NM_001303542.2:c.944C>T, NM_001303542.1:c.1160C>T, NM_001346748.2:c.827C>T, NM_001346748.1:c.827C>T, NM_001346747.2:c.749C>T, NM_001346747.1:c.749C>T, NM_001346749.2:c.470C>T, NM_001346749.1:c.470C>T, NP_116321.2:p.Thr417Ile, NP_001290471.2:p.Thr315Ile, NP_001333677.1:p.Thr276Ile, NP_001333676.1:p.Thr250Ile, NP_001333678.1:p.Thr157Ile

Select item 146077039814.

rs1460770398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:31517725 (GRCh38)
17:29844743 (GRCh37)
Canonical SPDI:: NC_000017.11:31517724:C:A,NC_000017.11:31517724:C:G,NC_000017.11:31517724:C:T
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00003/1 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.31517725C>A, NC_000017.11:g.31517725C>G, NC_000017.11:g.31517725C>T, NC_000017.10:g.29844743C>A, NC_000017.10:g.29844743C>G, NC_000017.10:g.29844743C>T, NG_051977.1:g.131102C>A, NG_051977.1:g.131102C>G, NG_051977.1:g.131102C>T, NM_032932.6:c.411C>A, NM_032932.6:c.411C>G, NM_032932.6:c.411C>T, NM_032932.5:c.411C>A, NM_032932.5:c.411C>G, NM_032932.5:c.411C>T, NM_032932.4:c.411C>A, NM_032932.4:c.411C>G, NM_032932.4:c.411C>T, NM_032932.3:c.411C>A, NM_032932.3:c.411C>G, NM_032932.3:c.411C>T, NM_001303542.3:c.105C>A, NM_001303542.3:c.105C>G, NM_001303542.3:c.105C>T, NM_001303542.2:c.105C>A, NM_001303542.2:c.105C>G, NM_001303542.2:c.105C>T, NM_001303542.1:c.321C>A, NM_001303542.1:c.321C>G, NM_001303542.1:c.321C>T, NM_001346748.2:c.-13C>A, NM_001346748.2:c.-13C>G, NM_001346748.2:c.-13C>T, NM_001346748.1:c.-13C>A, NM_001346748.1:c.-13C>G, NM_001346748.1:c.-13C>T, NM_001346747.2:c.105C>A, NM_001346747.2:c.105C>G, NM_001346747.2:c.105C>T, NM_001346747.1:c.105C>A, NM_001346747.1:c.105C>G, NM_001346747.1:c.105C>T, NP_116321.2:p.Asp137Glu, NP_116321.2:p.Asp137Glu, NP_001290471.2:p.Asp35Glu, NP_001290471.2:p.Asp35Glu, NP_001333676.1:p.Asp35Glu, NP_001333676.1:p.Asp35Glu

Select item 146040869715.

rs1460408697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31528707 (GRCh38)
17:29855725 (GRCh37)
Canonical SPDI:: NC_000017.11:31528706:T:C
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31528707T>C, NC_000017.10:g.29855725T>C, NG_051977.1:g.142084T>C, NM_032932.6:c.1582T>C, NM_032932.5:c.1582T>C, NM_032932.4:c.1582T>C, NM_032932.3:c.1582T>C, NM_001303542.3:c.1276T>C, NM_001303542.2:c.1276T>C, NM_001303542.1:c.1492T>C, NM_001346748.2:c.1159T>C, NM_001346748.1:c.1159T>C, NM_001346747.2:c.1081T>C, NM_001346747.1:c.1081T>C, NM_001346749.2:c.802T>C, NM_001346749.1:c.802T>C, NP_116321.2:p.Ser528Pro, NP_001290471.2:p.Ser426Pro, NP_001333677.1:p.Ser387Pro, NP_001333676.1:p.Ser361Pro, NP_001333678.1:p.Ser268Pro

Select item 145850308616.

rs1458503086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31517731 (GRCh38)
17:29844749 (GRCh37)
Canonical SPDI:: NC_000017.11:31517730:G:A
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000018/4 (GnomAD_exomes)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.31517731G>A, NC_000017.10:g.29844749G>A, NG_051977.1:g.131108G>A, NM_032932.6:c.417G>A, NM_032932.5:c.417G>A, NM_032932.4:c.417G>A, NM_032932.3:c.417G>A, NM_001303542.3:c.111G>A, NM_001303542.2:c.111G>A, NM_001303542.1:c.327G>A, NM_001346748.2:c.-7G>A, NM_001346748.1:c.-7G>A, NM_001346747.2:c.111G>A, NM_001346747.1:c.111G>A

Select item 145419697117.

rs1454196971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:31527885 (GRCh38)
17:29854903 (GRCh37)
Canonical SPDI:: NC_000017.11:31527884:G:C
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31527885G>C, NC_000017.10:g.29854903G>C, NG_051977.1:g.141262G>C, NM_032932.6:c.1318G>C, NM_032932.5:c.1318G>C, NM_032932.4:c.1318G>C, NM_032932.3:c.1318G>C, NM_001303542.3:c.1012G>C, NM_001303542.2:c.1012G>C, NM_001303542.1:c.1228G>C, NM_001346748.2:c.895G>C, NM_001346748.1:c.895G>C, NM_001346747.2:c.817G>C, NM_001346747.1:c.817G>C, NM_001346749.2:c.538G>C, NM_001346749.1:c.538G>C, NP_116321.2:p.Val440Leu, NP_001290471.2:p.Val338Leu, NP_001333677.1:p.Val299Leu, NP_001333676.1:p.Val273Leu, NP_001333678.1:p.Val180Leu

Select item 145323157418.

rs1453231574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:31528469 (GRCh38)
17:29855487 (GRCh37)
Canonical SPDI:: NC_000017.11:31528468:C:T
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.31528469C>T, NC_000017.10:g.29855487C>T, NG_051977.1:g.141846C>T, NM_032932.6:c.1420C>T, NM_032932.5:c.1420C>T, NM_032932.4:c.1420C>T, NM_032932.3:c.1420C>T, NM_001303542.3:c.1114C>T, NM_001303542.2:c.1114C>T, NM_001303542.1:c.1330C>T, NM_001346748.2:c.997C>T, NM_001346748.1:c.997C>T, NM_001346747.2:c.919C>T, NM_001346747.1:c.919C>T, NM_001346749.2:c.640C>T, NM_001346749.1:c.640C>T

Select item 145294303819.

rs1452943038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31528466 (GRCh38)
17:29855484 (GRCh37)
Canonical SPDI:: NC_000017.11:31528465:G:A
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31528466G>A, NC_000017.10:g.29855484G>A, NG_051977.1:g.141843G>A, NM_032932.6:c.1417G>A, NM_032932.5:c.1417G>A, NM_032932.4:c.1417G>A, NM_032932.3:c.1417G>A, NM_001303542.3:c.1111G>A, NM_001303542.2:c.1111G>A, NM_001303542.1:c.1327G>A, NM_001346748.2:c.994G>A, NM_001346748.1:c.994G>A, NM_001346747.2:c.916G>A, NM_001346747.1:c.916G>A, NM_001346749.2:c.637G>A, NM_001346749.1:c.637G>A, NP_116321.2:p.Asp473Asn, NP_001290471.2:p.Asp371Asn, NP_001333677.1:p.Asp332Asn, NP_001333676.1:p.Asp306Asn, NP_001333678.1:p.Asp213Asn

Select item 145022600820.

rs1450226008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:31517660 (GRCh38)
17:29844678 (GRCh37)
Canonical SPDI:: NC_000017.11:31517659:G:A
Gene:: RAB11FIP4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.31517660G>A, NC_000017.10:g.29844678G>A, NG_051977.1:g.131037G>A, NM_032932.6:c.346G>A, NM_032932.5:c.346G>A, NM_032932.4:c.346G>A, NM_032932.3:c.346G>A, NM_001303542.3:c.40G>A, NM_001303542.2:c.40G>A, NM_001303542.1:c.256G>A, NM_001346748.2:c.-78G>A, NM_001346748.1:c.-78G>A, NM_001346747.2:c.40G>A, NM_001346747.1:c.40G>A, NP_116321.2:p.Val116Ile, NP_001290471.2:p.Val14Ile, NP_001333676.1:p.Val14Ile

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