Canonical Allele Identifier: CA10413874

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 2697510
• ClinVar RCV Id: RCV003549312
• dbSNP Id: rs782708865
• ExAC: X:49851393 A / G
• gnomAD v2: X-49851393-A-G
• gnomAD v3: X-50086736-A-G
• gnomAD v4: X-50086736-A-G
• MyVariant Identifiers: chrX:g.49851393A>G (hg19) ; chrX:g.50086736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086736A>G , CM000685.2:g.50086736A>G	GRCh38
NC_000023.10:g.49851393A>G , CM000685.1:g.49851393A>G	GRCh37
NC_000023.9:g.49738133A>G	NCBI36
NG_007159.3:g.169121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1423A>G MANE Select	ENSP00000365259.3:p.Asn475Asp
ENST00000642383.1:c.673A>G	ENSP00000496353.1:p.Asn225Asp
ENST00000642885.1:c.1213A>G	ENSP00000496632.1:p.Asn405Asp
ENST00000643129.1:c.1710A>G
ENST00000646398.1:c.*598A>G	ENSP00000495122.1:n.*598A>G
ENST00000307367.2:c.1213A>G	ENSP00000304257.2:p.Asn405Asp
ENST00000376088.7:c.1423A>G	ENSP00000365256.3:p.Asn475Asp
ENST00000376091.7:c.1423A>G	ENSP00000365259.3:p.Asn475Asp
ENST00000376108.7:c.1213A>G	ENSP00000365276.3:p.Asn405Asp
NM_000084.4:c.1213A>G	NP_000075.1:p.Asn405Asp
NM_001127898.3:c.1423A>G	NP_001121370.1:p.Asn475Asp
NM_001127899.3:c.1423A>G	NP_001121371.1:p.Asn475Asp
NM_001282163.1:c.1273A>G	NP_001269092.1:p.Asn425Asp
XM_011543888.1:c.1423A>G	XP_011542190.1:p.Asn475Asp
XM_011543889.1:c.1213A>G	XP_011542191.1:p.Asn405Asp
XM_017029257.1:c.1435A>G	XP_016884746.1:p.Asn479Asp
XM_017029258.1:c.1435A>G	XP_016884747.1:p.Asn479Asp
NM_001127898.4:c.1423A>G MANE Select	NP_001121370.1:p.Asn475Asp
NM_000084.5:c.1213A>G	NP_000075.1:p.Asn405Asp
NM_001127899.4:c.1423A>G	NP_001121371.1:p.Asn475Asp
NM_001282163.2:c.1273A>G	NP_001269092.1:p.Asn425Asp