SNP Links for Protein (Select 597955386) - SNP

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Links from Protein

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Select item 14897921631.

rs1489792163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151716010 (GRCh38)
1:151688486 (GRCh37)
Canonical SPDI:: NC_000001.11:151716009:G:A
Gene:: CELF3 (Varview), RIIAD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151716010G>A, NC_000001.10:g.151688486G>A, NM_007185.7:c.11C>T, NM_007185.6:c.11C>T, NM_007185.5:c.11C>T, NM_007185.4:c.11C>T, NM_001172648.4:c.-388C>T, NM_001172648.3:c.-388C>T, NM_001172648.2:c.-388C>T, NM_001172648.1:c.-388C>T, NM_001172649.4:c.11C>T, NM_001172649.3:c.11C>T, NM_001172649.2:c.11C>T, NM_001172649.1:c.11C>T, NM_001291107.2:c.11C>T, NM_001291107.1:c.11C>T, NM_001291106.2:c.11C>T, NM_001291106.1:c.11C>T, NP_009116.3:p.Pro4Leu, NP_001166120.1:p.Pro4Leu, NP_001278036.1:p.Pro4Leu, NP_001278035.1:p.Pro4Leu

Select item 14897820222.

rs1489782022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:151707598 (GRCh38)
1:151680074 (GRCh37)
Canonical SPDI:: NC_000001.11:151707597:G:C,NC_000001.11:151707597:G:T
Gene:: CELF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.151707598G>C, NC_000001.11:g.151707598G>T, NC_000001.10:g.151680074G>C, NC_000001.10:g.151680074G>T, NM_007185.7:c.681C>G, NM_007185.7:c.681C>A, NM_007185.6:c.681C>G, NM_007185.6:c.681C>A, NM_007185.5:c.681C>G, NM_007185.5:c.681C>A, NM_007185.4:c.681C>G, NM_007185.4:c.681C>A, NM_001172648.4:c.540C>G, NM_001172648.4:c.540C>A, NM_001172648.3:c.540C>G, NM_001172648.3:c.540C>A, NM_001172648.2:c.540C>G, NM_001172648.2:c.540C>A, NM_001172648.1:c.540C>G, NM_001172648.1:c.540C>A, NM_001172649.4:c.681C>G, NM_001172649.4:c.681C>A, NM_001172649.3:c.681C>G, NM_001172649.3:c.681C>A, NM_001172649.2:c.681C>G, NM_001172649.2:c.681C>A, NM_001172649.1:c.681C>G, NM_001172649.1:c.681C>A, NM_001291107.2:c.678C>G, NM_001291107.2:c.678C>A, NM_001291107.1:c.678C>G, NM_001291107.1:c.678C>A, NM_001291106.2:c.681C>G, NM_001291106.2:c.681C>A, NM_001291106.1:c.681C>G, NM_001291106.1:c.681C>A, NP_009116.3:p.Ser227Arg, NP_009116.3:p.Ser227Arg, NP_001166119.1:p.Ser180Arg, NP_001166119.1:p.Ser180Arg, NP_001166120.1:p.Ser227Arg, NP_001166120.1:p.Ser227Arg, NP_001278036.1:p.Ser226Arg, NP_001278036.1:p.Ser226Arg, NP_001278035.1:p.Ser227Arg, NP_001278035.1:p.Ser227Arg

Select item 14887073263.

rs1488707326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151706348 (GRCh38)
1:151678824 (GRCh37)
Canonical SPDI:: NC_000001.11:151706347:T:C
Gene:: CELF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151706348T>C, NC_000001.10:g.151678824T>C, NM_007185.7:c.1002A>G, NM_007185.6:c.1002A>G, NM_007185.5:c.1002A>G, NM_007185.4:c.1002A>G, NM_001172648.4:c.861A>G, NM_001172648.3:c.861A>G, NM_001172648.2:c.861A>G, NM_001172648.1:c.861A>G, NM_001172649.4:c.852A>G, NM_001172649.3:c.852A>G, NM_001172649.2:c.852A>G, NM_001172649.1:c.852A>G, NM_001291107.2:c.999A>G, NM_001291107.1:c.999A>G, NM_001291106.2:c.999A>G, NM_001291106.1:c.999A>G

Select item 14882474554.

rs1488247455 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151707175 (GRCh38)
1:151679651 (GRCh37)
Canonical SPDI:: NC_000001.11:151707174:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151707175G>A, NC_000001.10:g.151679651G>A, NM_007185.7:c.892C>T, NM_007185.6:c.892C>T, NM_007185.5:c.892C>T, NM_007185.4:c.892C>T, NM_001172648.4:c.751C>T, NM_001172648.3:c.751C>T, NM_001172648.2:c.751C>T, NM_001172648.1:c.751C>T, NM_001291107.2:c.889C>T, NM_001291107.1:c.889C>T, NM_001291106.2:c.892C>T, NM_001291106.1:c.892C>T

Select item 14882091485.

rs1488209148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:151714672 (GRCh38)
1:151687148 (GRCh37)
Canonical SPDI:: NC_000001.11:151714671:A:G,NC_000001.11:151714671:A:T
Gene:: CELF3 (Varview), RIIAD1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151714672A>G, NC_000001.11:g.151714672A>T, NC_000001.10:g.151687148A>G, NC_000001.10:g.151687148A>T, NM_007185.7:c.150T>C, NM_007185.7:c.150T>A, NM_007185.6:c.150T>C, NM_007185.6:c.150T>A, NM_007185.5:c.150T>C, NM_007185.5:c.150T>A, NM_007185.4:c.150T>C, NM_007185.4:c.150T>A, NM_001172648.4:c.9T>C, NM_001172648.4:c.9T>A, NM_001172648.3:c.9T>C, NM_001172648.3:c.9T>A, NM_001172648.2:c.9T>C, NM_001172648.2:c.9T>A, NM_001172648.1:c.9T>C, NM_001172648.1:c.9T>A, NM_001172649.4:c.150T>C, NM_001172649.4:c.150T>A, NM_001172649.3:c.150T>C, NM_001172649.3:c.150T>A, NM_001172649.2:c.150T>C, NM_001172649.2:c.150T>A, NM_001172649.1:c.150T>C, NM_001172649.1:c.150T>A, NM_001291107.2:c.150T>C, NM_001291107.2:c.150T>A, NM_001291107.1:c.150T>C, NM_001291107.1:c.150T>A, NM_001291106.2:c.150T>C, NM_001291106.2:c.150T>A, NM_001291106.1:c.150T>C, NM_001291106.1:c.150T>A, NP_009116.3:p.Cys50Ter, NP_001166119.1:p.Cys3Ter, NP_001166120.1:p.Cys50Ter, NP_001278036.1:p.Cys50Ter, NP_001278035.1:p.Cys50Ter

Select item 14877173166.

rs1487717316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151705859 (GRCh38)
1:151678335 (GRCh37)
Canonical SPDI:: NC_000001.11:151705858:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151705859G>A, NC_000001.10:g.151678335G>A, NM_007185.7:c.1233C>T, NM_007185.6:c.1233C>T, NM_007185.5:c.1233C>T, NM_007185.4:c.1233C>T, NM_001172648.4:c.1092C>T, NM_001172648.3:c.1092C>T, NM_001172648.2:c.1092C>T, NM_001172648.1:c.1092C>T, NM_001172649.4:c.1083C>T, NM_001172649.3:c.1083C>T, NM_001172649.2:c.1083C>T, NM_001172649.1:c.1083C>T, NM_001291107.2:c.1230C>T, NM_001291107.1:c.1230C>T, NM_001291106.2:c.1230C>T, NM_001291106.1:c.1230C>T

Select item 14851016457.

rs1485101645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151707294 (GRCh38)
1:151679770 (GRCh37)
Canonical SPDI:: NC_000001.11:151707293:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_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_000001.11:g.151707294C>T, NC_000001.10:g.151679770C>T, NM_007185.7:c.773G>A, NM_007185.6:c.773G>A, NM_007185.5:c.773G>A, NM_007185.4:c.773G>A, NM_001172648.4:c.632G>A, NM_001172648.3:c.632G>A, NM_001172648.2:c.632G>A, NM_001172648.1:c.632G>A, NM_001291107.2:c.770G>A, NM_001291107.1:c.770G>A, NM_001291106.2:c.773G>A, NM_001291106.1:c.773G>A, NP_009116.3:p.Gly258Glu, NP_001166119.1:p.Gly211Glu, NP_001278036.1:p.Gly257Glu, NP_001278035.1:p.Gly258Glu

Select item 14838663878.

rs1483866387 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151707536 (GRCh38)
1:151680012 (GRCh37)
Canonical SPDI:: NC_000001.11:151707535:A:G
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151707536A>G, NC_000001.10:g.151680012A>G, NM_007185.7:c.743T>C, NM_007185.6:c.743T>C, NM_007185.5:c.743T>C, NM_007185.4:c.743T>C, NM_001172648.4:c.602T>C, NM_001172648.3:c.602T>C, NM_001172648.2:c.602T>C, NM_001172648.1:c.602T>C, NM_001172649.4:c.743T>C, NM_001172649.3:c.743T>C, NM_001172649.2:c.743T>C, NM_001172649.1:c.743T>C, NM_001291107.2:c.740T>C, NM_001291107.1:c.740T>C, NM_001291106.2:c.743T>C, NM_001291106.1:c.743T>C, NP_009116.3:p.Leu248Pro, NP_001166119.1:p.Leu201Pro, NP_001166120.1:p.Leu248Pro, NP_001278036.1:p.Leu247Pro, NP_001278035.1:p.Leu248Pro

Select item 14835377739.

rs1483537773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151707185 (GRCh38)
1:151679661 (GRCh37)
Canonical SPDI:: NC_000001.11:151707184:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.151707185G>A, NC_000001.10:g.151679661G>A, NM_007185.7:c.882C>T, NM_007185.6:c.882C>T, NM_007185.5:c.882C>T, NM_007185.4:c.882C>T, NM_001172648.4:c.741C>T, NM_001172648.3:c.741C>T, NM_001172648.2:c.741C>T, NM_001172648.1:c.741C>T, NM_001291107.2:c.879C>T, NM_001291107.1:c.879C>T, NM_001291106.2:c.882C>T, NM_001291106.1:c.882C>T

Select item 148305209810.

rs1483052098 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:151715936 (GRCh38)
1:151688412 (GRCh37)
Canonical SPDI:: NC_000001.11:151715934:TGT:T
Gene:: CELF3 (Varview), RIIAD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151715936_151715937del, NC_000001.10:g.151688412_151688413del, NM_007185.7:c.85_86del, NM_007185.6:c.85_86del, NM_007185.5:c.85_86del, NM_007185.4:c.85_86del, NM_001172648.4:c.-314_-313del, NM_001172648.3:c.-314_-313del, NM_001172648.2:c.-314_-313del, NM_001172648.1:c.-314_-313del, NM_001172649.4:c.85_86del, NM_001172649.3:c.85_86del, NM_001172649.2:c.85_86del, NM_001172649.1:c.85_86del, NM_001291107.2:c.85_86del, NM_001291107.1:c.85_86del, NM_001291106.2:c.85_86del, NM_001291106.1:c.85_86del, NP_009116.3:p.Gln29fs, NP_001166120.1:p.Gln29fs, NP_001278036.1:p.Gln29fs, NP_001278035.1:p.Gln29fs

Select item 148161478911.

rs1481614789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151714595 (GRCh38)
1:151687071 (GRCh37)
Canonical SPDI:: NC_000001.11:151714594:C:T
Gene:: CELF3 (Varview), RIIAD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.151714595C>T, NC_000001.10:g.151687071C>T, NM_007185.7:c.227G>A, NM_007185.6:c.227G>A, NM_007185.5:c.227G>A, NM_007185.4:c.227G>A, NM_001172648.4:c.86G>A, NM_001172648.3:c.86G>A, NM_001172648.2:c.86G>A, NM_001172648.1:c.86G>A, NM_001172649.4:c.227G>A, NM_001172649.3:c.227G>A, NM_001172649.2:c.227G>A, NM_001172649.1:c.227G>A, NM_001291107.2:c.227G>A, NM_001291107.1:c.227G>A, NM_001291106.2:c.227G>A, NM_001291106.1:c.227G>A, NP_009116.3:p.Gly76Glu, NP_001166119.1:p.Gly29Glu, NP_001166120.1:p.Gly76Glu, NP_001278036.1:p.Gly76Glu, NP_001278035.1:p.Gly76Glu

Select item 148160228012.

rs1481602280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151705100 (GRCh38)
1:151677576 (GRCh37)
Canonical SPDI:: NC_000001.11:151705099:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151705100C>T, NC_000001.10:g.151677576C>T, NM_007185.7:c.1339G>A, NM_007185.6:c.1339G>A, NM_007185.5:c.1339G>A, NM_007185.4:c.1339G>A, NM_001172648.4:c.1198G>A, NM_001172648.3:c.1198G>A, NM_001172648.2:c.1198G>A, NM_001172648.1:c.1198G>A, NM_001172649.4:c.1189G>A, NM_001172649.3:c.1189G>A, NM_001172649.2:c.1189G>A, NM_001172649.1:c.1189G>A, NM_001291107.2:c.1336G>A, NM_001291107.1:c.1336G>A, NM_001291106.2:c.1336G>A, NM_001291106.1:c.1336G>A, NP_009116.3:p.Gly447Ser, NP_001166119.1:p.Gly400Ser, NP_001166120.1:p.Gly397Ser, NP_001278036.1:p.Gly446Ser, NP_001278035.1:p.Gly446Ser

Select item 147964556413.

rs1479645564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151705080 (GRCh38)
1:151677556 (GRCh37)
Canonical SPDI:: NC_000001.11:151705079:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151705080G>A, NC_000001.10:g.151677556G>A, NM_007185.7:c.1359C>T, NM_007185.6:c.1359C>T, NM_007185.5:c.1359C>T, NM_007185.4:c.1359C>T, NM_001172648.4:c.1218C>T, NM_001172648.3:c.1218C>T, NM_001172648.2:c.1218C>T, NM_001172648.1:c.1218C>T, NM_001172649.4:c.1209C>T, NM_001172649.3:c.1209C>T, NM_001172649.2:c.1209C>T, NM_001172649.1:c.1209C>T, NM_001291107.2:c.1356C>T, NM_001291107.1:c.1356C>T, NM_001291106.2:c.1356C>T, NM_001291106.1:c.1356C>T

Select item 147934404914.

rs1479344049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151707545 (GRCh38)
1:151680021 (GRCh37)
Canonical SPDI:: NC_000001.11:151707544:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.151707545G>A, NC_000001.10:g.151680021G>A, NM_007185.7:c.734C>T, NM_007185.6:c.734C>T, NM_007185.5:c.734C>T, NM_007185.4:c.734C>T, NM_001172648.4:c.593C>T, NM_001172648.3:c.593C>T, NM_001172648.2:c.593C>T, NM_001172648.1:c.593C>T, NM_001172649.4:c.734C>T, NM_001172649.3:c.734C>T, NM_001172649.2:c.734C>T, NM_001172649.1:c.734C>T, NM_001291107.2:c.731C>T, NM_001291107.1:c.731C>T, NM_001291106.2:c.734C>T, NM_001291106.1:c.734C>T, NP_009116.3:p.Ala245Val, NP_001166119.1:p.Ala198Val, NP_001166120.1:p.Ala245Val, NP_001278036.1:p.Ala244Val, NP_001278035.1:p.Ala245Val

Select item 147931230015.

rs1479312300 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTTG [Show Flanks]
Chromosome:: 1:151706267 (GRCh38)
1:151678744 (GRCh37)
Canonical SPDI:: NC_000001.11:151706267:TGCTGTTG:TGCTGTTGCTGTTG
Gene:: CELF3 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: TGCTGT=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151706270_151706275dup, NC_000001.10:g.151678746_151678751dup, NM_007185.7:c.1077_1082dup, NM_007185.6:c.1077_1082dup, NM_007185.5:c.1077_1082dup, NM_007185.4:c.1077_1082dup, NM_001172648.4:c.936_941dup, NM_001172648.3:c.936_941dup, NM_001172648.2:c.936_941dup, NM_001172648.1:c.936_941dup, NM_001172649.4:c.927_932dup, NM_001172649.3:c.927_932dup, NM_001172649.2:c.927_932dup, NM_001172649.1:c.927_932dup, NM_001291107.2:c.1074_1079dup, NM_001291107.1:c.1074_1079dup, NM_001291106.2:c.1074_1079dup, NM_001291106.1:c.1074_1079dup, NP_009116.3:p.Gln372_Gln373dup, NP_001166119.1:p.Gln325_Gln326dup, NP_001166120.1:p.Gln322_Gln323dup, NP_001278036.1:p.Gln371_Gln372dup, NP_001278035.1:p.Gln371_Gln372dup

Select item 147882857916.

rs1478828579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151707877 (GRCh38)
1:151680353 (GRCh37)
Canonical SPDI:: NC_000001.11:151707876:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.151707877C>T, NC_000001.10:g.151680353C>T, NM_007185.7:c.545G>A, NM_007185.6:c.545G>A, NM_007185.5:c.545G>A, NM_007185.4:c.545G>A, NM_001172648.4:c.404G>A, NM_001172648.3:c.404G>A, NM_001172648.2:c.404G>A, NM_001172648.1:c.404G>A, NM_001172649.4:c.545G>A, NM_001172649.3:c.545G>A, NM_001172649.2:c.545G>A, NM_001172649.1:c.545G>A, NM_001291107.2:c.542G>A, NM_001291107.1:c.542G>A, NM_001291106.2:c.545G>A, NM_001291106.1:c.545G>A, NP_009116.3:p.Arg182His, NP_001166119.1:p.Arg135His, NP_001166120.1:p.Arg182His, NP_001278036.1:p.Arg181His, NP_001278035.1:p.Arg182His

Select item 147508003117.

rs1475080031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151707609 (GRCh38)
1:151680085 (GRCh37)
Canonical SPDI:: NC_000001.11:151707608:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.151707609C>T, NC_000001.10:g.151680085C>T, NM_007185.7:c.670G>A, NM_007185.6:c.670G>A, NM_007185.5:c.670G>A, NM_007185.4:c.670G>A, NM_001172648.4:c.529G>A, NM_001172648.3:c.529G>A, NM_001172648.2:c.529G>A, NM_001172648.1:c.529G>A, NM_001172649.4:c.670G>A, NM_001172649.3:c.670G>A, NM_001172649.2:c.670G>A, NM_001172649.1:c.670G>A, NM_001291107.2:c.667G>A, NM_001291107.1:c.667G>A, NM_001291106.2:c.670G>A, NM_001291106.1:c.670G>A, NP_009116.3:p.Ala224Thr, NP_001166119.1:p.Ala177Thr, NP_001166120.1:p.Ala224Thr, NP_001278036.1:p.Ala223Thr, NP_001278035.1:p.Ala224Thr

Select item 147313520518.

rs1473135205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151707927 (GRCh38)
1:151680403 (GRCh37)
Canonical SPDI:: NC_000001.11:151707926:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.151707927C>T, NC_000001.10:g.151680403C>T, NM_007185.7:c.495G>A, NM_007185.6:c.495G>A, NM_007185.5:c.495G>A, NM_007185.4:c.495G>A, NM_001172648.4:c.354G>A, NM_001172648.3:c.354G>A, NM_001172648.2:c.354G>A, NM_001172648.1:c.354G>A, NM_001172649.4:c.495G>A, NM_001172649.3:c.495G>A, NM_001172649.2:c.495G>A, NM_001172649.1:c.495G>A, NM_001291107.2:c.492G>A, NM_001291107.1:c.492G>A, NM_001291106.2:c.495G>A, NM_001291106.1:c.495G>A

Select item 146987290619.

rs1469872906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151706723 (GRCh38)
1:151679199 (GRCh37)
Canonical SPDI:: NC_000001.11:151706722:C:T
Gene:: CELF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151706723C>T, NC_000001.10:g.151679199C>T, NM_007185.7:c.934G>A, NM_007185.6:c.934G>A, NM_007185.5:c.934G>A, NM_007185.4:c.934G>A, NM_001172648.4:c.793G>A, NM_001172648.3:c.793G>A, NM_001172648.2:c.793G>A, NM_001172648.1:c.793G>A, NM_001172649.4:c.784G>A, NM_001172649.3:c.784G>A, NM_001172649.2:c.784G>A, NM_001172649.1:c.784G>A, NM_001291107.2:c.931G>A, NM_001291107.1:c.931G>A, NM_001291106.2:c.934G>A, NM_001291106.1:c.934G>A, NP_009116.3:p.Ala312Thr, NP_001166119.1:p.Ala265Thr, NP_001166120.1:p.Ala262Thr, NP_001278036.1:p.Ala311Thr, NP_001278035.1:p.Ala312Thr

Select item 146219620920.

rs1462196209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151706242 (GRCh38)
1:151678718 (GRCh37)
Canonical SPDI:: NC_000001.11:151706241:G:A
Gene:: CELF3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000001.11:g.151706242G>A, NC_000001.10:g.151678718G>A, NM_007185.7:c.1108C>T, NM_007185.6:c.1108C>T, NM_007185.5:c.1108C>T, NM_007185.4:c.1108C>T, NM_001172648.4:c.967C>T, NM_001172648.3:c.967C>T, NM_001172648.2:c.967C>T, NM_001172648.1:c.967C>T, NM_001172649.4:c.958C>T, NM_001172649.3:c.958C>T, NM_001172649.2:c.958C>T, NM_001172649.1:c.958C>T, NM_001291107.2:c.1105C>T, NM_001291107.1:c.1105C>T, NM_001291106.2:c.1105C>T, NM_001291106.1:c.1105C>T, NP_009116.3:p.Gln370Ter, NP_001166119.1:p.Gln323Ter, NP_001166120.1:p.Gln320Ter, NP_001278036.1:p.Gln369Ter, NP_001278035.1:p.Gln369Ter

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