Canonical Allele Identifier: CA413186058

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 2007460
• ClinVar RCV Id: RCV002812143
• dbSNP Id: rs1285536666
• gnomAD v4: X-50086721-C-T
• MyVariant Identifiers: chrX:g.49851378C>T (hg19) ; chrX:g.50086721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086721C>T , CM000685.2:g.50086721C>T	GRCh38
NC_000023.10:g.49851378C>T , CM000685.1:g.49851378C>T	GRCh37
NC_000023.9:g.49738118C>T	NCBI36
NG_007159.3:g.169106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1408C>T MANE Select	ENSP00000365259.3:p.Leu470Phe
ENST00000642383.1:c.658C>T	ENSP00000496353.1:p.Leu220Phe
ENST00000642885.1:c.1198C>T	ENSP00000496632.1:p.Leu400Phe
ENST00000643129.1:c.1695C>T
ENST00000646398.1:c.*583C>T	ENSP00000495122.1:n.*583C>T
ENST00000307367.2:c.1198C>T	ENSP00000304257.2:p.Leu400Phe
ENST00000376088.7:c.1408C>T	ENSP00000365256.3:p.Leu470Phe
ENST00000376091.7:c.1408C>T	ENSP00000365259.3:p.Leu470Phe
ENST00000376108.7:c.1198C>T	ENSP00000365276.3:p.Leu400Phe
NM_000084.4:c.1198C>T	NP_000075.1:p.Leu400Phe
NM_001127898.3:c.1408C>T	NP_001121370.1:p.Leu470Phe
NM_001127899.3:c.1408C>T	NP_001121371.1:p.Leu470Phe
NM_001282163.1:c.1258C>T	NP_001269092.1:p.Leu420Phe
XM_011543888.1:c.1408C>T	XP_011542190.1:p.Leu470Phe
XM_011543889.1:c.1198C>T	XP_011542191.1:p.Leu400Phe
XM_017029257.1:c.1420C>T	XP_016884746.1:p.Leu474Phe
XM_017029258.1:c.1420C>T	XP_016884747.1:p.Leu474Phe
NM_001127898.4:c.1408C>T MANE Select	NP_001121370.1:p.Leu470Phe
NM_000084.5:c.1198C>T	NP_000075.1:p.Leu400Phe
NM_001127899.4:c.1408C>T	NP_001121371.1:p.Leu470Phe
NM_001282163.2:c.1258C>T	NP_001269092.1:p.Leu420Phe