Canonical Allele Identifier: CA10575782

Gene: CLCN4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10213980dup , CM000685.2:g.10213980dup	GRCh38
NC_000023.10:g.10182020dup , CM000685.1:g.10182020dup	GRCh37
NC_000023.9:g.10142020dup	NCBI36
NG_012496.1:g.62036dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001830.4:c.1876dup MANE Select	NP_001821.2:p.Ile626AsnfsTer?
ENST00000380833.9:c.1876dup MANE Select	ENSP00000370213.4:p.Ile626AsnfsTer?
NM_001256944.1:c.1594dup	NP_001243873.1:p.Ile532AsnfsTer?
NM_001256944.2:c.1594dup	NP_001243873.1:p.Ile532AsnfsTer?
NM_001830.3:c.1876dup	NP_001821.2:p.Ile626AsnfsTer?
ENST00000380829.5:c.1783dup	ENSP00000370209.1:p.Ile595AsnfsTer?
ENST00000380833.8:c.1876dup	ENSP00000370213.4:p.Ile626AsnfsTer?
ENST00000421085.6:c.1594dup	ENSP00000405754.2:p.Ile532AsnfsTer?
ENST00000421085.7:c.1900dup	ENSP00000405754.3:p.Ile634AsnfsTer?
ENST00000674669.1:c.1594dup	ENSP00000501922.1:p.Ile532AsnfsTer?
ENST00000675144.1:c.*1650dup	ENSP00000501600.1:n.*1650dup
ENST00000675769.1:c.1876dup	ENSP00000502110.1:p.Ile626AsnfsTer?