Canonical Allele Identifier: CA1748893966

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342055C= , CM000669.2:g.143342055C=	GRCh38
NC_000007.13:g.143039148C= , CM000669.1:g.143039148C=	GRCh37
NC_000007.12:g.142749270C=	NCBI36
NG_009815.1:g.30930C=
NG_009815.2:g.30930C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1709C=	ENSP00000498052.2:p.Ala570=
ENST00000343257.7:c.1709C= MANE Select	ENSP00000339867.2:p.Ala570=
ENST00000432192.6:c.1533C=
ENST00000343257.6:c.1709C=	ENSP00000339867.2:p.Ala570=
NM_000083.2:c.1709C=	NP_000074.2:p.Ala570=
NR_046453.1:n.1649C=
XM_011515781.1:c.1733C=	XP_011514083.1:p.Ala578=
XM_011515782.1:c.455C=	XP_011514084.1:p.Ala152=
XM_011515782.2:c.455C=	XP_011514084.1:p.Ala152=
XM_017011739.1:c.1283C=	XP_016867228.1:p.Ala428=
XM_017011740.1:c.1259C=	XP_016867229.1:p.Ala420=
NM_000083.3:c.1709C= MANE Select	NP_000074.3:p.Ala570=
NR_046453.2:n.1664C=