Canonical Allele Identifier: CA1748898403

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351936G= , CM000669.2:g.143351936G=	GRCh38
NC_000007.13:g.143049029G= , CM000669.1:g.143049029G=	GRCh37
NC_000007.12:g.142759151G=	NCBI36
NG_009815.1:g.40811G=
NG_009815.2:g.40811G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2938G=	ENSP00000498052.2:p.Glu980=
ENST00000343257.7:c.2938G= MANE Select	ENSP00000339867.2:p.Glu980=
ENST00000343257.6:c.2938G=	ENSP00000339867.2:p.Glu980=
NM_000083.2:c.2938G=	NP_000074.2:p.Glu980=
NR_046453.1:n.2878G=
XM_011515781.1:c.2962G=	XP_011514083.1:p.Glu988=
XM_011515782.1:c.1684G=	XP_011514084.1:p.Glu562=
XM_011515782.2:c.1684G=	XP_011514084.1:p.Glu562=
XM_017011739.1:c.2512G=	XP_016867228.1:p.Glu838=
XM_017011740.1:c.2488G=	XP_016867229.1:p.Glu830=
NM_000083.3:c.2938G= MANE Select	NP_000074.3:p.Glu980=
NR_046453.2:n.2893G=