Canonical Allele Identifier: CA413185746

Gene: CLCN5

Linked Data

• dbSNP Id: rs1269212796
• gnomAD v2: X-49851312-C-T
• gnomAD v3: X-50086655-C-T
• gnomAD v4: X-50086655-C-T
• MyVariant Identifiers: chrX:g.49851312C>T (hg19) ; chrX:g.50086655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086655C>T , CM000685.2:g.50086655C>T	GRCh38
NC_000023.10:g.49851312C>T , CM000685.1:g.49851312C>T	GRCh37
NC_000023.9:g.49738052C>T	NCBI36
NG_007159.3:g.169040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1342C>T MANE Select	ENSP00000365259.3:p.Arg448Trp
ENST00000642383.1:c.592C>T	ENSP00000496353.1:p.Arg198Trp
ENST00000642885.1:c.1132C>T	ENSP00000496632.1:p.Arg378Trp
ENST00000643129.1:c.1629C>T
ENST00000646398.1:c.*517C>T	ENSP00000495122.1:n.*517C>T
ENST00000307367.2:c.1132C>T	ENSP00000304257.2:p.Arg378Trp
ENST00000376088.7:c.1342C>T	ENSP00000365256.3:p.Arg448Trp
ENST00000376091.7:c.1342C>T	ENSP00000365259.3:p.Arg448Trp
ENST00000376108.7:c.1132C>T	ENSP00000365276.3:p.Arg378Trp
NM_000084.4:c.1132C>T	NP_000075.1:p.Arg378Trp
NM_001127898.3:c.1342C>T	NP_001121370.1:p.Arg448Trp
NM_001127899.3:c.1342C>T	NP_001121371.1:p.Arg448Trp
NM_001282163.1:c.1192C>T	NP_001269092.1:p.Arg398Trp
XM_011543888.1:c.1342C>T	XP_011542190.1:p.Arg448Trp
XM_011543889.1:c.1132C>T	XP_011542191.1:p.Arg378Trp
XM_017029257.1:c.1354C>T	XP_016884746.1:p.Arg452Trp
XM_017029258.1:c.1354C>T	XP_016884747.1:p.Arg452Trp
NM_001127898.4:c.1342C>T MANE Select	NP_001121370.1:p.Arg448Trp
NM_000084.5:c.1132C>T	NP_000075.1:p.Arg378Trp
NM_001127899.4:c.1342C>T	NP_001121371.1:p.Arg448Trp
NM_001282163.2:c.1192C>T	NP_001269092.1:p.Arg398Trp