Canonical Allele Identifier: CA1748893907

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341932C= , CM000669.2:g.143341932C=	GRCh38
NC_000007.13:g.143039025C= , CM000669.1:g.143039025C=	GRCh37
NC_000007.12:g.142749147C=	NCBI36
NG_009815.1:g.30807C=
NG_009815.2:g.30807C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1586C=	ENSP00000498052.2:p.Ala529=
ENST00000343257.7:c.1586C= MANE Select	ENSP00000339867.2:p.Ala529=
ENST00000432192.6:c.1410C=
ENST00000343257.6:c.1586C=	ENSP00000339867.2:p.Ala529=
NM_000083.2:c.1586C=	NP_000074.2:p.Ala529=
NR_046453.1:n.1526C=
XM_011515781.1:c.1610C=	XP_011514083.1:p.Ala537=
XM_011515782.1:c.332C=	XP_011514084.1:p.Ala111=
XM_011515782.2:c.332C=	XP_011514084.1:p.Ala111=
XM_017011739.1:c.1160C=	XP_016867228.1:p.Ala387=
XM_017011740.1:c.1136C=	XP_016867229.1:p.Ala379=
NM_000083.3:c.1586C= MANE Select	NP_000074.3:p.Ala529=
NR_046453.2:n.1541C=