Canonical Allele Identifier: CA1748893913

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341946G= , CM000669.2:g.143341946G=	GRCh38
NC_000007.13:g.143039039G= , CM000669.1:g.143039039G=	GRCh37
NC_000007.12:g.142749161G=	NCBI36
NG_009815.1:g.30821G=
NG_009815.2:g.30821G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1600G=	ENSP00000498052.2:p.Gly534=
ENST00000343257.7:c.1600G= MANE Select	ENSP00000339867.2:p.Gly534=
ENST00000432192.6:c.1424G=
ENST00000343257.6:c.1600G=	ENSP00000339867.2:p.Gly534=
NM_000083.2:c.1600G=	NP_000074.2:p.Gly534=
NR_046453.1:n.1540G=
XM_011515781.1:c.1624G=	XP_011514083.1:p.Gly542=
XM_011515782.1:c.346G=	XP_011514084.1:p.Gly116=
XM_011515782.2:c.346G=	XP_011514084.1:p.Gly116=
XM_017011739.1:c.1174G=	XP_016867228.1:p.Gly392=
XM_017011740.1:c.1150G=	XP_016867229.1:p.Gly384=
NM_000083.3:c.1600G= MANE Select	NP_000074.3:p.Gly534=
NR_046453.2:n.1555G=