Canonical Allele Identifier: CA347324

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 207999
• ClinVar RCV Id: RCV000192279 ; RCV000414429 ; RCV001813768 ; RCV002478667 ; RCV003401037
• dbSNP Id: rs797044813
• gnomAD v4: X-50090490-C-T
• MyVariant Identifiers: chrX:g.49855147C>T (hg19) ; chrX:g.50090490C>T (hg38)
• PubMed: PMID:11136179 ; PMID:15719255 ; PMID:15895257 ; PMID:16822791 ; PMID:18038239 ; PMID:19076289 ; PMID:19546586 ; PMID:22876375 ; PMID:24081861

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50090490C>T , CM000685.2:g.50090490C>T	GRCh38
NC_000023.10:g.49855147C>T , CM000685.1:g.49855147C>T	GRCh37
NC_000023.9:g.49741887C>T	NCBI36
NG_007159.3:g.172875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.2119C>T MANE Select	ENSP00000365259.3:p.Arg707Ter
ENST00000642383.1:c.1441C>T	ENSP00000496353.1:p.Arg481Ter
ENST00000642885.1:c.1909C>T	ENSP00000496632.1:p.Arg637Ter
ENST00000643129.1:c.2406C>T
ENST00000646398.1:c.*1294C>T	ENSP00000495122.1:n.*1294C>T
ENST00000307367.2:c.1909C>T	ENSP00000304257.2:p.Arg637Ter
ENST00000376088.7:c.2119C>T	ENSP00000365256.3:p.Arg707Ter
ENST00000376091.7:c.2119C>T	ENSP00000365259.3:p.Arg707Ter
ENST00000376108.7:c.1909C>T	ENSP00000365276.3:p.Arg637Ter
NM_000084.4:c.1909C>T	NP_000075.1:p.Arg637Ter
NM_001127898.3:c.2119C>T	NP_001121370.1:p.Arg707Ter
NM_001127899.3:c.2119C>T	NP_001121371.1:p.Arg707Ter
NM_001282163.1:c.1969C>T	NP_001269092.1:p.Arg657Ter
XM_011543888.1:c.2191C>T	XP_011542190.1:p.Arg731Ter
XM_011543889.1:c.1981C>T	XP_011542191.1:p.Arg661Ter
XM_017029257.1:c.2131C>T	XP_016884746.1:p.Arg711Ter
XM_017029258.1:c.2131C>T	XP_016884747.1:p.Arg711Ter
NM_001127898.4:c.2119C>T MANE Select	NP_001121370.1:p.Arg707Ter
NM_000084.5:c.1909C>T	NP_000075.1:p.Arg637Ter
NM_001127899.4:c.2119C>T	NP_001121371.1:p.Arg707Ter
NM_001282163.2:c.1969C>T	NP_001269092.1:p.Arg657Ter