Canonical Allele Identifier: CA1748893995

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342130G= , CM000669.2:g.143342130G=	GRCh38
NC_000007.13:g.143039223G= , CM000669.1:g.143039223G=	GRCh37
NC_000007.12:g.142749345G=	NCBI36
NG_009815.1:g.31005G=
NG_009815.2:g.31005G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1784G=	ENSP00000498052.2:p.Trp595=
ENST00000343257.7:c.1784G= MANE Select	ENSP00000339867.2:p.Trp595=
ENST00000432192.6:c.1608G=
ENST00000343257.6:c.1784G=	ENSP00000339867.2:p.Trp595=
NM_000083.2:c.1784G=	NP_000074.2:p.Trp595=
NR_046453.1:n.1724G=
XM_011515781.1:c.1808G=	XP_011514083.1:p.Trp603=
XM_011515782.1:c.530G=	XP_011514084.1:p.Trp177=
XM_011515782.2:c.530G=	XP_011514084.1:p.Trp177=
XM_017011739.1:c.1358G=	XP_016867228.1:p.Trp453=
XM_017011740.1:c.1334G=	XP_016867229.1:p.Trp445=
NM_000083.3:c.1784G= MANE Select	NP_000074.3:p.Trp595=
NR_046453.2:n.1739G=