Canonical Allele Identifier: CA1748893915

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341950C= , CM000669.2:g.143341950C=	GRCh38
NC_000007.13:g.143039043C= , CM000669.1:g.143039043C=	GRCh37
NC_000007.12:g.142749165C=	NCBI36
NG_009815.1:g.30825C=
NG_009815.2:g.30825C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1604C=	ENSP00000498052.2:p.Ala535=
ENST00000343257.7:c.1604C= MANE Select	ENSP00000339867.2:p.Ala535=
ENST00000432192.6:c.1428C=
ENST00000343257.6:c.1604C=	ENSP00000339867.2:p.Ala535=
NM_000083.2:c.1604C=	NP_000074.2:p.Ala535=
NR_046453.1:n.1544C=
XM_011515781.1:c.1628C=	XP_011514083.1:p.Ala543=
XM_011515782.1:c.350C=	XP_011514084.1:p.Ala117=
XM_011515782.2:c.350C=	XP_011514084.1:p.Ala117=
XM_017011739.1:c.1178C=	XP_016867228.1:p.Ala393=
XM_017011740.1:c.1154C=	XP_016867229.1:p.Ala385=
NM_000083.3:c.1604C= MANE Select	NP_000074.3:p.Ala535=
NR_046453.2:n.1559C=