Canonical Allele Identifier: CA412041542

Gene: CLCN4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.10213734G>T , CM000685.2:g.10213734G>T	GRCh38
NC_000023.10:g.10181774G>T , CM000685.1:g.10181774G>T	GRCh37
NC_000023.9:g.10141774G>T	NCBI36
NG_012496.1:g.61790G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001830.4:c.1630G>T MANE Select	NP_001821.2:p.Gly544Trp
ENST00000380833.9:c.1630G>T MANE Select	ENSP00000370213.4:p.Gly544Trp
NM_001256944.1:c.1348G>T	NP_001243873.1:p.Gly450Trp
NM_001256944.2:c.1348G>T	NP_001243873.1:p.Gly450Trp
NM_001830.3:c.1630G>T	NP_001821.2:p.Gly544Trp
ENST00000380829.5:c.1537G>T	ENSP00000370209.1:p.Gly513Trp
ENST00000380833.8:c.1630G>T	ENSP00000370213.4:p.Gly544Trp
ENST00000421085.6:c.1348G>T	ENSP00000405754.2:p.Gly450Trp
ENST00000421085.7:c.1654G>T	ENSP00000405754.3:p.Gly552Trp
ENST00000674669.1:c.1348G>T	ENSP00000501922.1:p.Gly450Trp
ENST00000675144.1:c.*1404G>T	ENSP00000501600.1:n.*1404G>T
ENST00000675769.1:c.1630G>T	ENSP00000502110.1:p.Gly544Trp