Canonical Allele Identifier: CA10575780

Gene: CLCN4

Linked Data

• ClinVar Variation Id: 209116
• ClinVar RCV Id: RCV002252041
• dbSNP Id: rs879255584
• MyVariant Identifiers: chrX:g.10188877C>T (hg19) ; chrX:g.10220837C>T (hg38)
• PubMed: PMID:27550844 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10220837C>T , CM000685.2:g.10220837C>T	GRCh38
NC_000023.10:g.10188877C>T , CM000685.1:g.10188877C>T	GRCh37
NC_000023.9:g.10148877C>T	NCBI36
NG_012496.1:g.68893C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380833.9:c.2152C>T MANE Select	ENSP00000370213.4:p.Arg718Trp
ENST00000421085.7:c.2176C>T	ENSP00000405754.3:p.Arg726Trp
ENST00000674669.1:c.1870C>T	ENSP00000501922.1:p.Arg624Trp
ENST00000675144.1:c.*1926C>T	ENSP00000501600.1:n.*1926C>T
ENST00000675769.1:c.2152C>T	ENSP00000502110.1:p.Arg718Trp
ENST00000380829.5:c.2059C>T	ENSP00000370209.1:p.Arg687Trp
ENST00000380833.8:c.2152C>T	ENSP00000370213.4:p.Arg718Trp
ENST00000421085.6:c.1870C>T	ENSP00000405754.2:p.Arg624Trp
NM_001256944.1:c.1870C>T	NP_001243873.1:p.Arg624Trp
NM_001830.3:c.2152C>T	NP_001821.2:p.Arg718Trp
NM_001830.4:c.2152C>T MANE Select	NP_001821.2:p.Arg718Trp
NM_001256944.2:c.1870C>T	NP_001243873.1:p.Arg624Trp