Canonical Allele Identifier: CA1748898285

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351692G= , CM000669.2:g.143351692G=	GRCh38
NC_000007.13:g.143048785G= , CM000669.1:g.143048785G=	GRCh37
NC_000007.12:g.142758907G=	NCBI36
NG_009815.1:g.40567G=
NG_009815.2:g.40567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2694G=	ENSP00000498052.2:p.Gly898=
ENST00000343257.7:c.2694G= MANE Select	ENSP00000339867.2:p.Gly898=
ENST00000432192.6:c.2518G=
ENST00000343257.6:c.2694G=	ENSP00000339867.2:p.Gly898=
NM_000083.2:c.2694G=	NP_000074.2:p.Gly898=
NR_046453.1:n.2634G=
XM_011515781.1:c.2718G=	XP_011514083.1:p.Gly906=
XM_011515782.1:c.1440G=	XP_011514084.1:p.Gly480=
XM_011515782.2:c.1440G=	XP_011514084.1:p.Gly480=
XM_017011739.1:c.2268G=	XP_016867228.1:p.Gly756=
XM_017011740.1:c.2244G=	XP_016867229.1:p.Gly748=
NM_000083.3:c.2694G= MANE Select	NP_000074.3:p.Gly898=
NR_046453.2:n.2649G=