Canonical Allele Identifier: CA413186114

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 1805461
• ClinVar RCV Id: RCV002471879
• gnomAD v4: X-50086733-G-A
• MyVariant Identifiers: chrX:g.49851390G>A (hg19) ; chrX:g.50086733G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086733G>A , CM000685.2:g.50086733G>A	GRCh38
NC_000023.10:g.49851390G>A , CM000685.1:g.49851390G>A	GRCh37
NC_000023.9:g.49738130G>A	NCBI36
NG_007159.3:g.169118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1420G>A MANE Select	ENSP00000365259.3:p.Glu474Lys
ENST00000642383.1:c.670G>A	ENSP00000496353.1:p.Glu224Lys
ENST00000642885.1:c.1210G>A	ENSP00000496632.1:p.Glu404Lys
ENST00000643129.1:c.1707G>A
ENST00000646398.1:c.*595G>A	ENSP00000495122.1:n.*595G>A
ENST00000307367.2:c.1210G>A	ENSP00000304257.2:p.Glu404Lys
ENST00000376088.7:c.1420G>A	ENSP00000365256.3:p.Glu474Lys
ENST00000376091.7:c.1420G>A	ENSP00000365259.3:p.Glu474Lys
ENST00000376108.7:c.1210G>A	ENSP00000365276.3:p.Glu404Lys
NM_000084.4:c.1210G>A	NP_000075.1:p.Glu404Lys
NM_001127898.3:c.1420G>A	NP_001121370.1:p.Glu474Lys
NM_001127899.3:c.1420G>A	NP_001121371.1:p.Glu474Lys
NM_001282163.1:c.1270G>A	NP_001269092.1:p.Glu424Lys
XM_011543888.1:c.1420G>A	XP_011542190.1:p.Glu474Lys
XM_011543889.1:c.1210G>A	XP_011542191.1:p.Glu404Lys
XM_017029257.1:c.1432G>A	XP_016884746.1:p.Glu478Lys
XM_017029258.1:c.1432G>A	XP_016884747.1:p.Glu478Lys
NM_001127898.4:c.1420G>A MANE Select	NP_001121370.1:p.Glu474Lys
NM_000084.5:c.1210G>A	NP_000075.1:p.Glu404Lys
NM_001127899.4:c.1420G>A	NP_001121371.1:p.Glu474Lys
NM_001282163.2:c.1270G>A	NP_001269092.1:p.Glu424Lys