Canonical Allele Identifier: CA10413848

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 1051620
• ClinVar RCV Id: RCV001359686 ; RCV003246935
• dbSNP Id: rs782693047
• ExAC: X:49851192 C / T
• gnomAD v2: X-49851192-C-T
• gnomAD v3: X-50086535-C-T
• gnomAD v4: X-50086535-C-T
• COSMIC: COSM1159274 ; COSM1159275
• MyVariant Identifiers: chrX:g.49851192C>T (hg19) ; chrX:g.50086535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086535C>T , CM000685.2:g.50086535C>T	GRCh38
NC_000023.10:g.49851192C>T , CM000685.1:g.49851192C>T	GRCh37
NC_000023.9:g.49737932C>T	NCBI36
NG_007159.3:g.168920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1222C>T MANE Select	ENSP00000365259.3:p.Arg408Cys
ENST00000642383.1:c.472C>T	ENSP00000496353.1:p.Arg158Cys
ENST00000642885.1:c.1012C>T	ENSP00000496632.1:p.Arg338Cys
ENST00000643129.1:c.1509C>T
ENST00000646398.1:c.*397C>T	ENSP00000495122.1:n.*397C>T
ENST00000307367.2:c.1012C>T	ENSP00000304257.2:p.Arg338Cys
ENST00000376088.7:c.1222C>T	ENSP00000365256.3:p.Arg408Cys
ENST00000376091.7:c.1222C>T	ENSP00000365259.3:p.Arg408Cys
ENST00000376108.7:c.1012C>T	ENSP00000365276.3:p.Arg338Cys
NM_000084.4:c.1012C>T	NP_000075.1:p.Arg338Cys
NM_001127898.3:c.1222C>T	NP_001121370.1:p.Arg408Cys
NM_001127899.3:c.1222C>T	NP_001121371.1:p.Arg408Cys
NM_001282163.1:c.1072C>T	NP_001269092.1:p.Arg358Cys
XM_011543888.1:c.1222C>T	XP_011542190.1:p.Arg408Cys
XM_011543889.1:c.1012C>T	XP_011542191.1:p.Arg338Cys
XM_017029257.1:c.1234C>T	XP_016884746.1:p.Arg412Cys
XM_017029258.1:c.1234C>T	XP_016884747.1:p.Arg412Cys
NM_001127898.4:c.1222C>T MANE Select	NP_001121370.1:p.Arg408Cys
NM_000084.5:c.1012C>T	NP_000075.1:p.Arg338Cys
NM_001127899.4:c.1222C>T	NP_001121371.1:p.Arg408Cys
NM_001282163.2:c.1072C>T	NP_001269092.1:p.Arg358Cys