Canonical Allele Identifier: CA1748884195

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324442C= , CM000669.2:g.143324442C=	GRCh38
NC_000007.13:g.143021535C= , CM000669.1:g.143021535C=	GRCh37
NC_000007.12:g.142731657C=	NCBI36
NG_009815.1:g.13317C=
NG_009815.2:g.13317C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+545C=	ENSP00000498052.2:n.853+545C=
ENST00000343257.7:c.803C= MANE Select	ENSP00000339867.2:p.Thr268=
ENST00000432192.6:c.627C=
ENST00000455478.6:c.391C=	ENSP00000400027.2:n.391C=
ENST00000650516.1:c.853+545C=	ENSP00000498052.1:n.853+545C=
ENST00000343257.6:c.803C=	ENSP00000339867.2:p.Thr268=
ENST00000432192.5:c.317C=
ENST00000455478.5:c.395C=
ENST00000495612.1:n.154+2594C=
NM_000083.2:c.803C=	NP_000074.2:p.Thr268=
NR_046453.1:n.893C=
XM_011515781.1:c.853+545C=	XP_011514083.1:n.853+545C=
XM_017011739.1:c.403+2594C=	XP_016867228.1:n.403+2594C=
XM_017011740.1:c.403+2594C=	XP_016867229.1:n.403+2594C=
NM_000083.3:c.803C= MANE Select	NP_000074.3:p.Thr268=
NR_046453.2:n.908C=