Canonical Allele Identifier: CA412037184

Gene: CLCN4

Linked Data

• ClinVar Variation Id: 429943
• ClinVar RCV Id: RCV000493438 ; RCV000509195
• dbSNP Id: rs1131691687
• COSMIC: COSM5487130
• MyVariant Identifiers: chrX:g.10174779G>A (hg19) ; chrX:g.10206739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10206739G>A , CM000685.2:g.10206739G>A	GRCh38
NC_000023.10:g.10174779G>A , CM000685.1:g.10174779G>A	GRCh37
NC_000023.9:g.10134779G>A	NCBI36
NG_012496.1:g.54795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380833.9:c.806G>A MANE Select	ENSP00000370213.4:p.Gly269Asp
ENST00000421085.7:c.830G>A	ENSP00000405754.3:p.Gly277Asp
ENST00000674669.1:c.524G>A	ENSP00000501922.1:p.Gly175Asp
ENST00000675144.1:c.*580G>A	ENSP00000501600.1:n.*580G>A
ENST00000675769.1:c.806G>A	ENSP00000502110.1:p.Gly269Asp
ENST00000380829.5:c.806G>A	ENSP00000370209.1:p.Gly269Asp
ENST00000380833.8:c.806G>A	ENSP00000370213.4:p.Gly269Asp
ENST00000421085.6:c.524G>A	ENSP00000405754.2:p.Gly175Asp
NM_001256944.1:c.524G>A	NP_001243873.1:p.Gly175Asp
NM_001830.3:c.806G>A	NP_001821.2:p.Gly269Asp
NM_001830.4:c.806G>A MANE Select	NP_001821.2:p.Gly269Asp
NM_001256944.2:c.524G>A	NP_001243873.1:p.Gly175Asp