Canonical Allele Identifier: CA10575776

Gene: CLCN4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10206437T>G , CM000685.2:g.10206437T>G	GRCh38
NC_000023.10:g.10174477T>G , CM000685.1:g.10174477T>G	GRCh37
NC_000023.9:g.10134477T>G	NCBI36
NG_012496.1:g.54493T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001830.4:c.635T>G MANE Select	NP_001821.2:p.Val212Gly
ENST00000380833.9:c.635T>G MANE Select	ENSP00000370213.4:p.Val212Gly
NM_001256944.1:c.353T>G	NP_001243873.1:p.Val118Gly
NM_001256944.2:c.353T>G	NP_001243873.1:p.Val118Gly
NM_001830.3:c.635T>G	NP_001821.2:p.Val212Gly
ENST00000380829.5:c.635T>G	ENSP00000370209.1:p.Val212Gly
ENST00000380833.8:c.635T>G	ENSP00000370213.4:p.Val212Gly
ENST00000421085.6:c.353T>G	ENSP00000405754.2:p.Val118Gly
ENST00000421085.7:c.659T>G	ENSP00000405754.3:p.Val220Gly
ENST00000454850.1:c.433-259T>G	ENSP00000403064.1:n.433-259T>G
ENST00000674669.1:c.353T>G	ENSP00000501922.1:p.Val118Gly
ENST00000675144.1:c.*409T>G	ENSP00000501600.1:n.*409T>G
ENST00000675769.1:c.635T>G	ENSP00000502110.1:p.Val212Gly