Canonical Allele Identifier: CA1748884228

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324457T= , CM000669.2:g.143324457T=	GRCh38
NC_000007.13:g.143021550T= , CM000669.1:g.143021550T=	GRCh37
NC_000007.12:g.142731672T=	NCBI36
NG_009815.1:g.13332T=
NG_009815.2:g.13332T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+560T=	ENSP00000498052.2:n.853+560T=
ENST00000343257.7:c.818T= MANE Select	ENSP00000339867.2:p.Val273=
ENST00000432192.6:c.642T=
ENST00000455478.6:c.406T=	ENSP00000400027.2:n.406T=
ENST00000650516.1:c.853+560T=	ENSP00000498052.1:n.853+560T=
ENST00000343257.6:c.818T=	ENSP00000339867.2:p.Val273=
ENST00000432192.5:c.332T=
ENST00000455478.5:c.410T=
ENST00000495612.1:n.154+2609T=
NM_000083.2:c.818T=	NP_000074.2:p.Val273=
NR_046453.1:n.908T=
XM_011515781.1:c.853+560T=	XP_011514083.1:n.853+560T=
XM_017011739.1:c.403+2609T=	XP_016867228.1:n.403+2609T=
XM_017011740.1:c.403+2609T=	XP_016867229.1:n.403+2609T=
NM_000083.3:c.818T= MANE Select	NP_000074.3:p.Val273=
NR_046453.2:n.923T=