Canonical Allele Identifier: CA1748893982

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342100A= , CM000669.2:g.143342100A=	GRCh38
NC_000007.13:g.143039193A= , CM000669.1:g.143039193A=	GRCh37
NC_000007.12:g.142749315A=	NCBI36
NG_009815.1:g.30975A=
NG_009815.2:g.30975A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1754A=	ENSP00000498052.2:p.Lys585=
ENST00000343257.7:c.1754A= MANE Select	ENSP00000339867.2:p.Lys585=
ENST00000432192.6:c.1578A=
ENST00000343257.6:c.1754A=	ENSP00000339867.2:p.Lys585=
NM_000083.2:c.1754A=	NP_000074.2:p.Lys585=
NR_046453.1:n.1694A=
XM_011515781.1:c.1778A=	XP_011514083.1:p.Lys593=
XM_011515782.1:c.500A=	XP_011514084.1:p.Lys167=
XM_011515782.2:c.500A=	XP_011514084.1:p.Lys167=
XM_017011739.1:c.1328A=	XP_016867228.1:p.Lys443=
XM_017011740.1:c.1304A=	XP_016867229.1:p.Lys435=
NM_000083.3:c.1754A= MANE Select	NP_000074.3:p.Lys585=
NR_046453.2:n.1709A=