Canonical Allele Identifier: CA1748898373

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351868T= , CM000669.2:g.143351868T=	GRCh38
NC_000007.13:g.143048961T= , CM000669.1:g.143048961T=	GRCh37
NC_000007.12:g.142759083T=	NCBI36
NG_009815.1:g.40743T=
NG_009815.2:g.40743T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2870T=	ENSP00000498052.2:p.Val957=
ENST00000343257.7:c.2870T= MANE Select	ENSP00000339867.2:p.Val957=
ENST00000343257.6:c.2870T=	ENSP00000339867.2:p.Val957=
NM_000083.2:c.2870T=	NP_000074.2:p.Val957=
NR_046453.1:n.2810T=
XM_011515781.1:c.2894T=	XP_011514083.1:p.Val965=
XM_011515782.1:c.1616T=	XP_011514084.1:p.Val539=
XM_011515782.2:c.1616T=	XP_011514084.1:p.Val539=
XM_017011739.1:c.2444T=	XP_016867228.1:p.Val815=
XM_017011740.1:c.2420T=	XP_016867229.1:p.Val807=
NM_000083.3:c.2870T= MANE Select	NP_000074.3:p.Val957=
NR_046453.2:n.2825T=