Canonical Allele Identifier: CA1748881870

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321829G= , CM000669.2:g.143321829G=	GRCh38
NC_000007.13:g.143018922G= , CM000669.1:g.143018922G=	GRCh37
NC_000007.12:g.142729044G=	NCBI36
NG_009815.1:g.10704G=
NG_009815.2:g.10704G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.677G=	ENSP00000498052.2:p.Gly226=
ENST00000343257.7:c.677G= MANE Select	ENSP00000339867.2:p.Gly226=
ENST00000432192.6:c.445G=
ENST00000455478.6:c.131G=	ENSP00000400027.2:p.Gly44=
ENST00000650516.1:c.677G=	ENSP00000498052.1:p.Gly226=
ENST00000343257.6:c.677G=	ENSP00000339867.2:p.Gly226=
ENST00000432192.5:c.135G=
ENST00000455478.5:c.135G=
ENST00000495612.1:n.135G=
NM_000083.2:c.677G=	NP_000074.2:p.Gly226=
NR_046453.1:n.764G=
XM_011515781.1:c.677G=	XP_011514083.1:p.Gly226=
XM_017011739.1:c.384G=	XP_016867228.1:p.Trp128=
XM_017011740.1:c.384G=	XP_016867229.1:p.Trp128=
NM_000083.3:c.677G= MANE Select	NP_000074.3:p.Gly226=
NR_046453.2:n.779G=