Canonical Allele Identifier: CA1748881880

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321834C= , CM000669.2:g.143321834C=	GRCh38
NC_000007.13:g.143018927C= , CM000669.1:g.143018927C=	GRCh37
NC_000007.12:g.142729049C=	NCBI36
NG_009815.1:g.10709C=
NG_009815.2:g.10709C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.682C=	ENSP00000498052.2:p.Pro228=
ENST00000343257.7:c.682C= MANE Select	ENSP00000339867.2:p.Pro228=
ENST00000432192.6:c.450C=
ENST00000455478.6:c.136C=	ENSP00000400027.2:p.Pro46=
ENST00000650516.1:c.682C=	ENSP00000498052.1:p.Pro228=
ENST00000343257.6:c.682C=	ENSP00000339867.2:p.Pro228=
ENST00000432192.5:c.140C=
ENST00000455478.5:c.140C=
ENST00000495612.1:n.140C=
NM_000083.2:c.682C=	NP_000074.2:p.Pro228=
NR_046453.1:n.769C=
XM_011515781.1:c.682C=	XP_011514083.1:p.Pro228=
XM_017011739.1:c.389C=	XP_016867228.1:p.Pro130=
XM_017011740.1:c.389C=	XP_016867229.1:p.Pro130=
NM_000083.3:c.682C= MANE Select	NP_000074.3:p.Pro228=
NR_046453.2:n.784C=