Canonical Allele Identifier: CA1748897725

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350577C= , CM000669.2:g.143350577C=	GRCh38
NC_000007.13:g.143047670C= , CM000669.1:g.143047670C=	GRCh37
NC_000007.12:g.142757792C=	NCBI36
NG_009815.1:g.39452C=
NG_009815.2:g.39452C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2518C=	ENSP00000498052.2:p.Leu840=
ENST00000343257.7:c.2518C= MANE Select	ENSP00000339867.2:p.Leu840=
ENST00000432192.6:c.2342C=
ENST00000343257.6:c.2518C=	ENSP00000339867.2:p.Leu840=
NM_000083.2:c.2518C=	NP_000074.2:p.Leu840=
NR_046453.1:n.2458C=
XM_011515781.1:c.2542C=	XP_011514083.1:p.Leu848=
XM_011515782.1:c.1264C=	XP_011514084.1:p.Leu422=
XM_011515782.2:c.1264C=	XP_011514084.1:p.Leu422=
XM_017011739.1:c.2092C=	XP_016867228.1:p.Leu698=
XM_017011740.1:c.2068C=	XP_016867229.1:p.Leu690=
NM_000083.3:c.2518C= MANE Select	NP_000074.3:p.Leu840=
NR_046453.2:n.2473C=