Canonical Allele Identifier: CA1748888895

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330788C= , CM000669.2:g.143330788C=	GRCh38
NC_000007.13:g.143027881C= , CM000669.1:g.143027881C=	GRCh37
NC_000007.12:g.142738003C=	NCBI36
NG_009815.1:g.19663C=
NG_009815.2:g.19663C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.870C= MANE Select	NP_000074.3:p.Ile290=
ENST00000343257.7:c.870C= MANE Select	ENSP00000339867.2:p.Ile290=
NM_000083.2:c.870C=	NP_000074.2:p.Ile290=
NR_046453.1:n.960C=
NR_046453.2:n.975C=
ENST00000343257.6:c.870C=	ENSP00000339867.2:p.Ile290=
ENST00000432192.5:c.384C=
ENST00000432192.6:c.694C=
ENST00000455478.5:c.462C=
ENST00000455478.6:c.458C=	ENSP00000400027.2:n.458C=
ENST00000495612.1:n.171C=
ENST00000650516.1:c.870C=	ENSP00000498052.1:p.Ile290=
ENST00000650516.2:c.870C=	ENSP00000498052.2:p.Ile290=
XM_011515781.1:c.870C=	XP_011514083.1:p.Ile290=
XM_017011739.1:c.420C=	XP_016867228.1:p.Ile140=
XM_017011740.1:c.420C=	XP_016867229.1:p.Ile140=