Canonical Allele Identifier: CA10651957

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 368488
• ClinVar RCV Id: RCV000350634
• dbSNP Id: rs111438914
• gnomAD v2: X-49857225-G-A
• gnomAD v3: X-50092568-G-A
• gnomAD v4: X-50092568-G-A
• MyVariant Identifiers: chrX:g.49857225G>A (hg19) ; chrX:g.50092568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50092568G>A , CM000685.2:g.50092568G>A	GRCh38
NC_000023.10:g.49857225G>A , CM000685.1:g.49857225G>A	GRCh37
NC_000023.9:g.49743965G>A	NCBI36
NG_007159.3:g.174953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.*349G>A MANE Select	ENSP00000365259.3:n.*349G>A
ENST00000642383.1:c.2122G>A	ENSP00000496353.1:n.2122G>A
ENST00000642885.1:c.*349G>A	ENSP00000496632.1:n.*349G>A
ENST00000643129.1:c.3087G>A
ENST00000646398.1:c.*1975G>A	ENSP00000495122.1:n.*1975G>A
ENST00000307367.2:c.*349G>A	ENSP00000304257.2:n.*349G>A
ENST00000376088.7:c.*349G>A	ENSP00000365256.3:n.*349G>A
NM_000084.4:c.*349G>A	NP_000075.1:n.*349G>A
NM_001127898.3:c.*349G>A	NP_001121370.1:n.*349G>A
NM_001127899.3:c.*349G>A	NP_001121371.1:n.*349G>A
NM_001282163.1:c.*349G>A	NP_001269092.1:n.*349G>A
XM_011543888.1:c.*349G>A	XP_011542190.1:n.*349G>A
XM_011543889.1:c.*349G>A	XP_011542191.1:n.*349G>A
XM_017029257.1:c.*349G>A	XP_016884746.1:n.*349G>A
XM_017029258.1:c.*349G>A	XP_016884747.1:n.*349G>A
NM_001127898.4:c.*349G>A MANE Select	NP_001121370.1:n.*349G>A
NM_000084.5:c.*349G>A	NP_000075.1:n.*349G>A
NM_001127899.4:c.*349G>A	NP_001121371.1:n.*349G>A
NM_001282163.2:c.*349G>A	NP_001269092.1:n.*349G>A