Canonical Allele Identifier: CA1748888902

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330797C= , CM000669.2:g.143330797C=	GRCh38
NC_000007.13:g.143027890C= , CM000669.1:g.143027890C=	GRCh37
NC_000007.12:g.142738012C=	NCBI36
NG_009815.1:g.19672C=
NG_009815.2:g.19672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.879C=	ENSP00000498052.2:p.Thr293=
ENST00000343257.7:c.879C= MANE Select	ENSP00000339867.2:p.Thr293=
ENST00000432192.6:c.703C=
ENST00000455478.6:c.467C=	ENSP00000400027.2:n.467C=
ENST00000650516.1:c.879C=	ENSP00000498052.1:p.Thr293=
ENST00000343257.6:c.879C=	ENSP00000339867.2:p.Thr293=
ENST00000432192.5:c.393C=
ENST00000455478.5:c.471C=
ENST00000495612.1:n.180C=
NM_000083.2:c.879C=	NP_000074.2:p.Thr293=
NR_046453.1:n.969C=
XM_011515781.1:c.879C=	XP_011514083.1:p.Thr293=
XM_017011739.1:c.429C=	XP_016867228.1:p.Thr143=
XM_017011740.1:c.429C=	XP_016867229.1:p.Thr143=
NM_000083.3:c.879C= MANE Select	NP_000074.3:p.Thr293=
NR_046453.2:n.984C=