Canonical Allele Identifier: CA1748898252

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351628G= , CM000669.2:g.143351628G=	GRCh38
NC_000007.13:g.143048721G= , CM000669.1:g.143048721G=	GRCh37
NC_000007.12:g.142758843G=	NCBI36
NG_009815.1:g.40503G=
NG_009815.2:g.40503G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2630G=	ENSP00000498052.2:p.Gly877=
ENST00000343257.7:c.2630G= MANE Select	ENSP00000339867.2:p.Gly877=
ENST00000432192.6:c.2454G=
ENST00000343257.6:c.2630G=	ENSP00000339867.2:p.Gly877=
NM_000083.2:c.2630G=	NP_000074.2:p.Gly877=
NR_046453.1:n.2570G=
XM_011515781.1:c.2654G=	XP_011514083.1:p.Gly885=
XM_011515782.1:c.1376G=	XP_011514084.1:p.Gly459=
XM_011515782.2:c.1376G=	XP_011514084.1:p.Gly459=
XM_017011739.1:c.2204G=	XP_016867228.1:p.Gly735=
XM_017011740.1:c.2180G=	XP_016867229.1:p.Gly727=
NM_000083.3:c.2630G= MANE Select	NP_000074.3:p.Gly877=
NR_046453.2:n.2585G=