Canonical Allele Identifier: CA1748897618

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350375G= , CM000669.2:g.143350375G=	GRCh38
NC_000007.13:g.143047468G= , CM000669.1:g.143047468G=	GRCh37
NC_000007.12:g.142757590G=	NCBI36
NG_009815.1:g.39250G=
NG_009815.2:g.39250G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2407G=	ENSP00000498052.2:p.Glu803=
ENST00000343257.7:c.2407G= MANE Select	ENSP00000339867.2:p.Glu803=
ENST00000432192.6:c.2231G=
ENST00000343257.6:c.2407G=	ENSP00000339867.2:p.Glu803=
NM_000083.2:c.2407G=	NP_000074.2:p.Glu803=
NR_046453.1:n.2347G=
XM_011515781.1:c.2431G=	XP_011514083.1:p.Glu811=
XM_011515782.1:c.1153G=	XP_011514084.1:p.Glu385=
XM_011515782.2:c.1153G=	XP_011514084.1:p.Glu385=
XM_017011739.1:c.1981G=	XP_016867228.1:p.Glu661=
XM_017011740.1:c.1957G=	XP_016867229.1:p.Glu653=
NM_000083.3:c.2407G= MANE Select	NP_000074.3:p.Glu803=
NR_046453.2:n.2362G=