E9PQ83 · E9PQ83_HUMAN

  • Protein
    Chloride nucleotide-sensitive channel 1A
  • Gene
    CLNS1A
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

14951015202530354045
MSFLKSFPPPGPAEGLLRQQPDTEAVLNGKGLGTGTLYIAERRIKRTCC
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7612840422S>NExAC
gnomAD
rs13864952872S>RgnomAD
rs14605529643F>LgnomAD
rs13003623793F>SgnomAD
rs19591483833F>VTOPMed
rs7739222064L>FExAC
gnomAD
rs14273832405K>QgnomAD
rs7685133157F>CExAC
gnomAD
rs7685133157F>SExAC
gnomAD
rs19591479308P>REnsembl
rs21357837598P>S1000Genomes
rs20066472811G>A1000Genomes
ExAC
TOPMed
gnomAD
rs20066472811G>E1000Genomes
ExAC
TOPMed
gnomAD
rs57006771011G>R1000Genomes
rs145724523312P>LTOPMed
gnomAD
rs136877118213A>GgnomAD
rs127381659915G>AgnomAD
rs127381659915G>EgnomAD
rs132097595015G>RTOPMed
gnomAD
rs132097595015G>WTOPMed
gnomAD
rs123301012817L>VTOPMed
gnomAD
rs56013404418R>LEnsembl
rs121713129118R>WTOPMed
gnomAD
rs133125267622D>NgnomAD
rs92133976023T>ITOPMed
gnomAD
rs93144155623T>PEnsembl
rs140021223125A>TTOPMed
gnomAD
rs213578366626V>MEnsembl
rs147096575228N>ITOPMed
gnomAD
rs56859511729G>A1000Genomes
gnomAD
rs56859511729G>E1000Genomes
gnomAD
rs56859511729G>V1000Genomes
gnomAD
rs140421693929G>WgnomAD
rs78132920530K>RExAC
TOPMed
gnomAD
rs213578362131G>SEnsembl
rs143907987132L>PgnomAD
rs195914647533G>REnsembl
rs74699779334T>AExAC
TOPMed
gnomAD
rs74699779334T>PExAC
TOPMed
gnomAD
rs195914631335G>STOPMed
gnomAD
rs91535361936T>NTOPMed
gnomAD
rs91535361936T>STOPMed
gnomAD
rs76092915738Y>*ExAC
gnomAD
rs77794438838Y>NExAC
gnomAD
rs97977911039I>SEnsembl
rs128171064340A>SgnomAD
TCGA novel
rs1284777048
43R>I
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs128477704843R>KgnomAD
rs122519376045K>EgnomAD
rs195901241346R>GEnsembl
rs195901237646R>KEnsembl
rs213576803047T>IEnsembl
rs19971242348C>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs135928358249C>*TOPMed
gnomAD
rs195901220450*>STOPMed
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp