SNP Links for Protein (Select 33946278) - SNP

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Links from Protein

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Select item 14781266731.

rs1478126673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:34712961 (GRCh38)
14:35182167 (GRCh37)
Canonical SPDI:: NC_000014.9:34712960:C:T
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34712961C>T, NC_000014.8:g.35182167C>T, NG_012740.1:g.6863G>A, NM_021914.8:c.405G>A, NM_021914.7:c.405G>A, NM_138638.5:c.405G>A, NM_138638.4:c.405G>A, NM_001243645.2:c.354G>A, NM_001243645.1:c.354G>A, NR_028130.2:n.315G>A, NR_028130.1:n.545G>A, NR_028131.2:n.204G>A, NR_028131.1:n.434G>A, NR_028132.1:n.523G>A, NP_068733.1:p.Trp135Ter, NP_619579.1:p.Trp135Ter, NP_001230574.1:p.Trp118Ter

Select item 14761294072.

rs1476129407 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713432 (GRCh38)
14:35182638 (GRCh37)
Canonical SPDI:: NC_000014.9:34713431:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713432T>C, NC_000014.8:g.35182638T>C, NG_012740.1:g.6392A>G, NM_021914.8:c.133A>G, NM_021914.7:c.133A>G, NM_138638.5:c.133A>G, NM_138638.4:c.133A>G, NM_001243645.2:c.82A>G, NM_001243645.1:c.82A>G, NR_028130.2:n.186A>G, NR_028130.1:n.416A>G, NR_028132.1:n.251A>G, NP_068733.1:p.Arg45Gly, NP_619579.1:p.Arg45Gly, NP_001230574.1:p.Arg28Gly

Select item 14699841403.

rs1469984140 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTT>- [Show Flanks]
Chromosome:: 14:34713279 (GRCh38)
14:35182485 (GRCh37)
Canonical SPDI:: NC_000014.9:34713273:TTCTTTCTT:TTCTT
Gene:: CFL2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713275TCTT[1], NC_000014.8:g.35182481TCTT[1], NG_012740.1:g.6543AGAA[1], NM_021914.8:c.288_291del, NM_021914.7:c.288_291del, NM_138638.5:c.288_291del, NM_138638.4:c.288_291del, NM_001243645.2:c.237_240del, NM_001243645.1:c.237_240del, NR_028132.1:n.402AGAA[1], NP_068733.1:p.Glu97fs, NP_619579.1:p.Glu97fs, NP_001230574.1:p.Glu80fs

Select item 14686471664.

rs1468647166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:34713289 (GRCh38)
14:35182495 (GRCh37)
Canonical SPDI:: NC_000014.9:34713288:T:C,NC_000014.9:34713288:T:G
Gene:: CFL2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,likely-benign
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713289T>C, NC_000014.9:g.34713289T>G, NC_000014.8:g.35182495T>C, NC_000014.8:g.35182495T>G, NG_012740.1:g.6535A>G, NG_012740.1:g.6535A>C, NM_021914.8:c.276A>G, NM_021914.8:c.276A>C, NM_021914.7:c.276A>G, NM_021914.7:c.276A>C, NM_138638.5:c.276A>G, NM_138638.5:c.276A>C, NM_138638.4:c.276A>G, NM_138638.4:c.276A>C, NM_001243645.2:c.225A>G, NM_001243645.2:c.225A>C, NM_001243645.1:c.225A>G, NM_001243645.1:c.225A>C, NR_028132.1:n.394A>G, NR_028132.1:n.394A>C, NP_068733.1:p.Lys92Asn, NP_619579.1:p.Lys92Asn, NP_001230574.1:p.Lys75Asn

Select item 14403210595.

rs1440321059 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:34712867 (GRCh38)
14:35182073 (GRCh37)
Canonical SPDI:: NC_000014.9:34712866:A:G
Gene:: CFL2 (Varview)
Functional Consequence:: terminator_codon_variant,non_coding_transcript_variant,stop_lost
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34712867A>G, NC_000014.8:g.35182073A>G, NG_012740.1:g.6957T>C, NM_021914.8:c.499T>C, NM_021914.7:c.499T>C, NM_138638.5:c.499T>C, NM_138638.4:c.499T>C, NM_001243645.2:c.448T>C, NM_001243645.1:c.448T>C, NR_028130.2:n.409T>C, NR_028130.1:n.639T>C, NR_028131.2:n.298T>C, NR_028131.1:n.528T>C, NR_028132.1:n.617T>C, NP_068733.1:p.Ter167Gln, NP_619579.1:p.Ter167Gln, NP_001230574.1:p.Ter150Gln

Select item 14249404076.

rs1424940407 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTA>- [Show Flanks]
Chromosome:: 14:34713422 (GRCh38)
14:35182628 (GRCh37)
Canonical SPDI:: NC_000014.9:34713420:AATTA:A
Gene:: CFL2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713422_34713425del, NC_000014.8:g.35182628_35182631del, NG_012740.1:g.6400_6403del, NM_021914.8:c.141_144del, NM_021914.7:c.141_144del, NM_138638.5:c.141_144del, NM_138638.4:c.141_144del, NM_001243645.2:c.90_93del, NM_001243645.1:c.90_93del, NR_028130.2:n.194_197del, NR_028130.1:n.424_427del, NR_028132.1:n.259_262del, NP_068733.1:p.Ile47fs, NP_619579.1:p.Ile47fs, NP_001230574.1:p.Ile30fs

Select item 14233305567.

rs1423330556 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 14:34713554 (GRCh38)
14:35182760 (GRCh37)
Canonical SPDI:: NC_000014.9:34713553:CC:C
Gene:: CFL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.34713555del, NC_000014.8:g.35182761del, NG_012740.1:g.6270del, NM_021914.8:c.11del, NM_021914.7:c.11del, NM_138638.5:c.11del, NM_138638.4:c.11del, NM_001243645.2:c.-41del, NM_001243645.1:c.-41del, NR_028130.2:n.64del, NR_028130.1:n.294del, NR_028131.2:n.64del, NR_028131.1:n.294del, NR_028132.1:n.129del, NP_068733.1:p.Gly4fs, NP_619579.1:p.Gly4fs

Select item 14213666288.

rs1421366628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34712968 (GRCh38)
14:35182174 (GRCh37)
Canonical SPDI:: NC_000014.9:34712967:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34712968T>C, NC_000014.8:g.35182174T>C, NG_012740.1:g.6856A>G, NM_021914.8:c.398A>G, NM_021914.7:c.398A>G, NM_138638.5:c.398A>G, NM_138638.4:c.398A>G, NM_001243645.2:c.347A>G, NM_001243645.1:c.347A>G, NR_028130.2:n.308A>G, NR_028130.1:n.538A>G, NR_028131.2:n.197A>G, NR_028131.1:n.427A>G, NR_028132.1:n.516A>G, NP_068733.1:p.His133Arg, NP_619579.1:p.His133Arg, NP_001230574.1:p.His116Arg

Select item 14113214459.

rs1411321445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 14:34713300 (GRCh38)
14:35182506 (GRCh37)
Canonical SPDI:: NC_000014.9:34713299:A:C,NC_000014.9:34713299:A:G
Gene:: CFL2 (Varview)
Functional Consequence:: missense_variant,intron_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_000014.9:g.34713300A>C, NC_000014.9:g.34713300A>G, NC_000014.8:g.35182506A>C, NC_000014.8:g.35182506A>G, NG_012740.1:g.6524T>G, NG_012740.1:g.6524T>C, NM_021914.8:c.265T>G, NM_021914.8:c.265T>C, NM_021914.7:c.265T>G, NM_021914.7:c.265T>C, NM_138638.5:c.265T>G, NM_138638.5:c.265T>C, NM_138638.4:c.265T>G, NM_138638.4:c.265T>C, NM_001243645.2:c.214T>G, NM_001243645.2:c.214T>C, NM_001243645.1:c.214T>G, NM_001243645.1:c.214T>C, NR_028132.1:n.383T>G, NR_028132.1:n.383T>C, NP_068733.1:p.Tyr89Asp, NP_068733.1:p.Tyr89His, NP_619579.1:p.Tyr89Asp, NP_619579.1:p.Tyr89His, NP_001230574.1:p.Tyr72Asp, NP_001230574.1:p.Tyr72His

Select item 140552830810.

rs1405528308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713467 (GRCh38)
14:35182673 (GRCh37)
Canonical SPDI:: NC_000014.9:34713466:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.34713467T>C, NC_000014.8:g.35182673T>C, NG_012740.1:g.6357A>G, NM_021914.8:c.98A>G, NM_021914.7:c.98A>G, NM_138638.5:c.98A>G, NM_138638.4:c.98A>G, NM_001243645.2:c.47A>G, NM_001243645.1:c.47A>G, NR_028130.2:n.151A>G, NR_028130.1:n.381A>G, NR_028132.1:n.216A>G, NP_068733.1:p.Lys33Arg, NP_619579.1:p.Lys33Arg, NP_001230574.1:p.Lys16Arg

Select item 140409023311.

rs1404090233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713477 (GRCh38)
14:35182683 (GRCh37)
Canonical SPDI:: NC_000014.9:34713476:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713477T>C, NC_000014.8:g.35182683T>C, NG_012740.1:g.6347A>G, NM_021914.8:c.88A>G, NM_021914.7:c.88A>G, NM_138638.5:c.88A>G, NM_138638.4:c.88A>G, NM_001243645.2:c.37A>G, NM_001243645.1:c.37A>G, NR_028130.2:n.141A>G, NR_028130.1:n.371A>G, NR_028132.1:n.206A>G, NP_068733.1:p.Lys30Glu, NP_619579.1:p.Lys30Glu, NP_001230574.1:p.Lys13Glu

Select item 140250404712.

rs1402504047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:34712865 (GRCh38)
14:35182071 (GRCh37)
Canonical SPDI:: NC_000014.9:34712864:T:G
Gene:: CFL2 (Varview)
Functional Consequence:: terminator_codon_variant,non_coding_transcript_variant,stop_lost
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34712865T>G, NC_000014.8:g.35182071T>G, NG_012740.1:g.6959A>C, NM_021914.8:c.501A>C, NM_021914.7:c.501A>C, NM_138638.5:c.501A>C, NM_138638.4:c.501A>C, NM_001243645.2:c.450A>C, NM_001243645.1:c.450A>C, NR_028130.2:n.411A>C, NR_028130.1:n.641A>C, NR_028131.2:n.300A>C, NR_028131.1:n.530A>C, NR_028132.1:n.619A>C, NP_068733.1:p.Ter167Tyr, NP_619579.1:p.Ter167Tyr, NP_001230574.1:p.Ter150Tyr

Select item 139244518013.

rs1392445180 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 14:34713425 (GRCh38)
14:35182631 (GRCh37)
Canonical SPDI:: NC_000014.9:34713422:TTATTT:TT
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.34713425_34713428del, NC_000014.8:g.35182631_35182634del, NG_012740.1:g.6398_6401del, NM_021914.8:c.139_142del, NM_021914.7:c.139_142del, NM_138638.5:c.139_142del, NM_138638.4:c.139_142del, NM_001243645.2:c.88_91del, NM_001243645.1:c.88_91del, NR_028130.2:n.192_195del, NR_028130.1:n.422_425del, NR_028132.1:n.257_260del, NP_068733.1:p.Ile47fs, NP_619579.1:p.Ile47fs, NP_001230574.1:p.Ile30fs

Select item 139082338514.

rs1390823385 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713389 (GRCh38)
14:35182595 (GRCh37)
Canonical SPDI:: NC_000014.9:34713388:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.34713389T>C, NC_000014.8:g.35182595T>C, NG_012740.1:g.6435A>G, NM_021914.8:c.176A>G, NM_021914.7:c.176A>G, NM_138638.5:c.176A>G, NM_138638.4:c.176A>G, NM_001243645.2:c.125A>G, NM_001243645.1:c.125A>G, NR_028132.1:n.294A>G, NP_068733.1:p.Asp59Gly, NP_619579.1:p.Asp59Gly, NP_001230574.1:p.Asp42Gly

Select item 138895523115.

rs1388955231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:34712879 (GRCh38)
14:35182085 (GRCh37)
Canonical SPDI:: NC_000014.9:34712878:C:T
Gene:: CFL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34712879C>T, NC_000014.8:g.35182085C>T, NG_012740.1:g.6945G>A, NM_021914.8:c.487G>A, NM_021914.7:c.487G>A, NM_138638.5:c.487G>A, NM_138638.4:c.487G>A, NM_001243645.2:c.436G>A, NM_001243645.1:c.436G>A, NR_028130.2:n.397G>A, NR_028130.1:n.627G>A, NR_028131.2:n.286G>A, NR_028131.1:n.516G>A, NR_028132.1:n.605G>A, NP_068733.1:p.Gly163Arg, NP_619579.1:p.Gly163Arg, NP_001230574.1:p.Gly146Arg

Select item 138297757316.

rs1382977573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713553 (GRCh38)
14:35182759 (GRCh37)
Canonical SPDI:: NC_000014.9:34713552:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.34713553T>C, NC_000014.8:g.35182759T>C, NG_012740.1:g.6271A>G, NM_021914.8:c.12A>G, NM_021914.7:c.12A>G, NM_138638.5:c.12A>G, NM_138638.4:c.12A>G, NM_001243645.2:c.-40A>G, NM_001243645.1:c.-40A>G, NR_028130.2:n.65A>G, NR_028130.1:n.295A>G, NR_028131.2:n.65A>G, NR_028131.1:n.295A>G, NR_028132.1:n.130A>G

Select item 137112714017.

rs1371127140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:34712916 (GRCh38)
14:35182123 (GRCh37)
Canonical SPDI:: NC_000014.9:34712916:CC:CCC
Gene:: CFL2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.34712918dup, NC_000014.8:g.35182124dup, NG_012740.1:g.6907dup, NM_021914.8:c.449dup, NM_021914.7:c.449dup, NM_138638.5:c.449dup, NM_138638.4:c.449dup, NM_001243645.2:c.398dup, NM_001243645.1:c.398dup, NR_028130.2:n.359dup, NR_028130.1:n.589dup, NR_028131.2:n.248dup, NR_028131.1:n.478dup, NR_028132.1:n.567dup, NP_068733.1:p.Glu151fs, NP_619579.1:p.Glu151fs, NP_001230574.1:p.Glu134fs

Select item 136100017018.

rs1361000170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:34713531 (GRCh38)
14:35182737 (GRCh37)
Canonical SPDI:: NC_000014.9:34713530:T:C
Gene:: CFL2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.34713531T>C, NC_000014.8:g.35182737T>C, NG_012740.1:g.6293A>G, NM_021914.8:c.34A>G, NM_021914.7:c.34A>G, NM_138638.5:c.34A>G, NM_138638.4:c.34A>G, NM_001243645.2:c.-18A>G, NM_001243645.1:c.-18A>G, NR_028130.2:n.87A>G, NR_028130.1:n.317A>G, NR_028131.2:n.87A>G, NR_028131.1:n.317A>G, NR_028132.1:n.152A>G, NP_068733.1:p.Ile12Val, NP_619579.1:p.Ile12Val

Select item 135396592419.

rs1353965924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 14:34713093 (GRCh38)
14:35182299 (GRCh37)
Canonical SPDI:: NC_000014.9:34713092:T:A
Gene:: CFL2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000024/5 (GnomAD_exomes)
A=0.00003/8 (TOPMED)
A=0.0001/14 (GnomAD)
HGVS:: NC_000014.9:g.34713093T>A, NC_000014.8:g.35182299T>A, NG_012740.1:g.6731A>T, NM_021914.8:c.355A>T, NM_021914.7:c.355A>T, NM_138638.5:c.355A>T, NM_138638.4:c.355A>T, NM_001243645.2:c.304A>T, NM_001243645.1:c.304A>T, NR_028130.2:n.265A>T, NR_028130.1:n.495A>T, NR_028131.2:n.154A>T, NR_028131.1:n.384A>T, NR_028132.1:n.473A>T, NP_068733.1:p.Ser119Cys, NP_619579.1:p.Ser119Cys, NP_001230574.1:p.Ser102Cys

Select item 135074446920.

rs1350744469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:34712977 (GRCh38)
14:35182183 (GRCh37)
Canonical SPDI:: NC_000014.9:34712976:C:A
Gene:: CFL2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.34712977C>A, NC_000014.8:g.35182183C>A, NG_012740.1:g.6847G>T, NM_021914.8:c.389G>T, NM_021914.7:c.389G>T, NM_138638.5:c.389G>T, NM_138638.4:c.389G>T, NM_001243645.2:c.338G>T, NM_001243645.1:c.338G>T, NR_028130.2:n.299G>T, NR_028130.1:n.529G>T, NR_028131.2:n.188G>T, NR_028131.1:n.418G>T, NR_028132.1:n.507G>T, NP_068733.1:p.Gly130Val, NP_619579.1:p.Gly130Val, NP_001230574.1:p.Gly113Val

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