Canonical Allele Identifier: CA1748898279

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351678C= , CM000669.2:g.143351678C=	GRCh38
NC_000007.13:g.143048771C= , CM000669.1:g.143048771C=	GRCh37
NC_000007.12:g.142758893C=	NCBI36
NG_009815.1:g.40553C=
NG_009815.2:g.40553C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2680C= MANE Select	NP_000074.3:p.Arg894=
ENST00000343257.7:c.2680C= MANE Select	ENSP00000339867.2:p.Arg894=
NM_000083.2:c.2680C=	NP_000074.2:p.Arg894=
NR_046453.1:n.2620C=
NR_046453.2:n.2635C=
ENST00000343257.6:c.2680C=	ENSP00000339867.2:p.Arg894=
ENST00000432192.6:c.2504C=
ENST00000650516.2:c.2680C=	ENSP00000498052.2:p.Arg894=
XM_011515781.1:c.2704C=	XP_011514083.1:p.Arg902=
XM_011515782.1:c.1426C=	XP_011514084.1:p.Arg476=
XM_011515782.2:c.1426C=	XP_011514084.1:p.Arg476=
XM_017011739.1:c.2254C=	XP_016867228.1:p.Arg752=
XM_017011740.1:c.2230C=	XP_016867229.1:p.Arg744=