Canonical Allele Identifier: CA1748893910

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341940C= , CM000669.2:g.143341940C=	GRCh38
NC_000007.13:g.143039033C= , CM000669.1:g.143039033C=	GRCh37
NC_000007.12:g.142749155C=	NCBI36
NG_009815.1:g.30815C=
NG_009815.2:g.30815C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1594C=	ENSP00000498052.2:p.Leu532=
ENST00000343257.7:c.1594C= MANE Select	ENSP00000339867.2:p.Leu532=
ENST00000432192.6:c.1418C=
ENST00000343257.6:c.1594C=	ENSP00000339867.2:p.Leu532=
NM_000083.2:c.1594C=	NP_000074.2:p.Leu532=
NR_046453.1:n.1534C=
XM_011515781.1:c.1618C=	XP_011514083.1:p.Leu540=
XM_011515782.1:c.340C=	XP_011514084.1:p.Leu114=
XM_011515782.2:c.340C=	XP_011514084.1:p.Leu114=
XM_017011739.1:c.1168C=	XP_016867228.1:p.Leu390=
XM_017011740.1:c.1144C=	XP_016867229.1:p.Leu382=
NM_000083.3:c.1594C= MANE Select	NP_000074.3:p.Leu532=
NR_046453.2:n.1549C=