Canonical Allele Identifier: CA1748898363

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351849T= , CM000669.2:g.143351849T=	GRCh38
NC_000007.13:g.143048942T= , CM000669.1:g.143048942T=	GRCh37
NC_000007.12:g.142759064T=	NCBI36
NG_009815.1:g.40724T=
NG_009815.2:g.40724T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2851T=	ENSP00000498052.2:p.Leu951=
ENST00000343257.7:c.2851T= MANE Select	ENSP00000339867.2:p.Leu951=
ENST00000343257.6:c.2851T=	ENSP00000339867.2:p.Leu951=
NM_000083.2:c.2851T=	NP_000074.2:p.Leu951=
NR_046453.1:n.2791T=
XM_011515781.1:c.2875T=	XP_011514083.1:p.Leu959=
XM_011515782.1:c.1597T=	XP_011514084.1:p.Leu533=
XM_011515782.2:c.1597T=	XP_011514084.1:p.Leu533=
XM_017011739.1:c.2425T=	XP_016867228.1:p.Leu809=
XM_017011740.1:c.2401T=	XP_016867229.1:p.Leu801=
NM_000083.3:c.2851T= MANE Select	NP_000074.3:p.Leu951=
NR_046453.2:n.2806T=