Canonical Allele Identifier: CA10413864

Gene: CLCN5

Linked Data

• dbSNP Id: rs782060117
• ExAC: X:49851313 G / A
• gnomAD v2: X-49851313-G-A
• gnomAD v3: X-50086656-G-A
• gnomAD v4: X-50086656-G-A
• COSMIC: COSM3694628 ; COSM3694629
• MyVariant Identifiers: chrX:g.49851313G>A (hg19) ; chrX:g.50086656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086656G>A , CM000685.2:g.50086656G>A	GRCh38
NC_000023.10:g.49851313G>A , CM000685.1:g.49851313G>A	GRCh37
NC_000023.9:g.49738053G>A	NCBI36
NG_007159.3:g.169041G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1343G>A MANE Select	ENSP00000365259.3:p.Arg448Gln
ENST00000642383.1:c.593G>A	ENSP00000496353.1:p.Arg198Gln
ENST00000642885.1:c.1133G>A	ENSP00000496632.1:p.Arg378Gln
ENST00000643129.1:c.1630G>A
ENST00000646398.1:c.*518G>A	ENSP00000495122.1:n.*518G>A
ENST00000307367.2:c.1133G>A	ENSP00000304257.2:p.Arg378Gln
ENST00000376088.7:c.1343G>A	ENSP00000365256.3:p.Arg448Gln
ENST00000376091.7:c.1343G>A	ENSP00000365259.3:p.Arg448Gln
ENST00000376108.7:c.1133G>A	ENSP00000365276.3:p.Arg378Gln
NM_000084.4:c.1133G>A	NP_000075.1:p.Arg378Gln
NM_001127898.3:c.1343G>A	NP_001121370.1:p.Arg448Gln
NM_001127899.3:c.1343G>A	NP_001121371.1:p.Arg448Gln
NM_001282163.1:c.1193G>A	NP_001269092.1:p.Arg398Gln
XM_011543888.1:c.1343G>A	XP_011542190.1:p.Arg448Gln
XM_011543889.1:c.1133G>A	XP_011542191.1:p.Arg378Gln
XM_017029257.1:c.1355G>A	XP_016884746.1:p.Arg452Gln
XM_017029258.1:c.1355G>A	XP_016884747.1:p.Arg452Gln
NM_001127898.4:c.1343G>A MANE Select	NP_001121370.1:p.Arg448Gln
NM_000084.5:c.1133G>A	NP_000075.1:p.Arg378Gln
NM_001127899.4:c.1343G>A	NP_001121371.1:p.Arg448Gln
NM_001282163.2:c.1193G>A	NP_001269092.1:p.Arg398Gln