Canonical Allele Identifier: CA1748898368

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351861G= , CM000669.2:g.143351861G=	GRCh38
NC_000007.13:g.143048954G= , CM000669.1:g.143048954G=	GRCh37
NC_000007.12:g.142759076G=	NCBI36
NG_009815.1:g.40736G=
NG_009815.2:g.40736G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2863G=	ENSP00000498052.2:p.Glu955=
ENST00000343257.7:c.2863G= MANE Select	ENSP00000339867.2:p.Glu955=
ENST00000343257.6:c.2863G=	ENSP00000339867.2:p.Glu955=
NM_000083.2:c.2863G=	NP_000074.2:p.Glu955=
NR_046453.1:n.2803G=
XM_011515781.1:c.2887G=	XP_011514083.1:p.Glu963=
XM_011515782.1:c.1609G=	XP_011514084.1:p.Glu537=
XM_011515782.2:c.1609G=	XP_011514084.1:p.Glu537=
XM_017011739.1:c.2437G=	XP_016867228.1:p.Glu813=
XM_017011740.1:c.2413G=	XP_016867229.1:p.Glu805=
NM_000083.3:c.2863G= MANE Select	NP_000074.3:p.Glu955=
NR_046453.2:n.2818G=