Canonical Allele Identifier: CA1748898386

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351894C= , CM000669.2:g.143351894C=	GRCh38
NC_000007.13:g.143048987C= , CM000669.1:g.143048987C=	GRCh37
NC_000007.12:g.142759109C=	NCBI36
NG_009815.1:g.40769C=
NG_009815.2:g.40769C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2896C=	ENSP00000498052.2:p.Leu966=
ENST00000343257.7:c.2896C= MANE Select	ENSP00000339867.2:p.Leu966=
ENST00000343257.6:c.2896C=	ENSP00000339867.2:p.Leu966=
NM_000083.2:c.2896C=	NP_000074.2:p.Leu966=
NR_046453.1:n.2836C=
XM_011515781.1:c.2920C=	XP_011514083.1:p.Leu974=
XM_011515782.1:c.1642C=	XP_011514084.1:p.Leu548=
XM_011515782.2:c.1642C=	XP_011514084.1:p.Leu548=
XM_017011739.1:c.2470C=	XP_016867228.1:p.Leu824=
XM_017011740.1:c.2446C=	XP_016867229.1:p.Leu816=
NM_000083.3:c.2896C= MANE Select	NP_000074.3:p.Leu966=
NR_046453.2:n.2851C=