Canonical Allele Identifier: CA1748893927

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341988G= , CM000669.2:g.143341988G=	GRCh38
NC_000007.13:g.143039081G= , CM000669.1:g.143039081G=	GRCh37
NC_000007.12:g.142749203G=	NCBI36
NG_009815.1:g.30863G=
NG_009815.2:g.30863G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1642G=	ENSP00000498052.2:p.Glu548=
ENST00000343257.7:c.1642G= MANE Select	ENSP00000339867.2:p.Glu548=
ENST00000432192.6:c.1466G=
ENST00000343257.6:c.1642G=	ENSP00000339867.2:p.Glu548=
NM_000083.2:c.1642G=	NP_000074.2:p.Glu548=
NR_046453.1:n.1582G=
XM_011515781.1:c.1666G=	XP_011514083.1:p.Glu556=
XM_011515782.1:c.388G=	XP_011514084.1:p.Glu130=
XM_011515782.2:c.388G=	XP_011514084.1:p.Glu130=
XM_017011739.1:c.1216G=	XP_016867228.1:p.Glu406=
XM_017011740.1:c.1192G=	XP_016867229.1:p.Glu398=
NM_000083.3:c.1642G= MANE Select	NP_000074.3:p.Glu548=
NR_046453.2:n.1597G=