Canonical Allele Identifier: CA347316
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 207996
ClinVar RCV Id: RCV000192276 RCV000381538
dbSNP Id: rs797044810
gnomAD v4: X-50086562-C-T
COSMIC: COSM1570137 COSM1570138
MyVariant Identifiers: chrX:g.49851219C>T (hg19) chrX:g.50086562C>T (hg38)
PubMed: PMID:9328929 PMID:15086899 PMID:15895257 PMID:16822791 PMID:19546591 PMID:22876375 PMID:24081861
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50086562C>T , CM000685.2:g.50086562C>T GRCh38
NC_000023.10:g.49851219C>T , CM000685.1:g.49851219C>T GRCh37
NC_000023.9:g.49737959C>T NCBI36
NG_007159.3:g.168947C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376091.8:c.1249C>T MANE Select ENSP00000365259.3:p.Arg417Ter
ENST00000642383.1:c.499C>T ENSP00000496353.1:p.Arg167Ter
ENST00000642885.1:c.1039C>T ENSP00000496632.1:p.Arg347Ter
ENST00000643129.1:c.1536C>T
ENST00000646398.1:c.*424C>T ENSP00000495122.1:n.*424C>T
ENST00000307367.2:c.1039C>T ENSP00000304257.2:p.Arg347Ter
ENST00000376088.7:c.1249C>T ENSP00000365256.3:p.Arg417Ter
ENST00000376091.7:c.1249C>T ENSP00000365259.3:p.Arg417Ter
ENST00000376108.7:c.1039C>T ENSP00000365276.3:p.Arg347Ter
NM_000084.4:c.1039C>T NP_000075.1:p.Arg347Ter
NM_001127898.3:c.1249C>T NP_001121370.1:p.Arg417Ter
NM_001127899.3:c.1249C>T NP_001121371.1:p.Arg417Ter
NM_001282163.1:c.1099C>T NP_001269092.1:p.Arg367Ter
XM_011543888.1:c.1249C>T XP_011542190.1:p.Arg417Ter
XM_011543889.1:c.1039C>T XP_011542191.1:p.Arg347Ter
XM_017029257.1:c.1261C>T XP_016884746.1:p.Arg421Ter
XM_017029258.1:c.1261C>T XP_016884747.1:p.Arg421Ter
NM_001127898.4:c.1249C>T MANE Select NP_001121370.1:p.Arg417Ter
NM_000084.5:c.1039C>T NP_000075.1:p.Arg347Ter
NM_001127899.4:c.1249C>T NP_001121371.1:p.Arg417Ter
NM_001282163.2:c.1099C>T NP_001269092.1:p.Arg367Ter
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