Canonical Allele Identifier: CA1748888935

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330867C= , CM000669.2:g.143330867C=	GRCh38
NC_000007.13:g.143027960C= , CM000669.1:g.143027960C=	GRCh37
NC_000007.12:g.142738082C=	NCBI36
NG_009815.1:g.19742C=
NG_009815.2:g.19742C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.949C=	ENSP00000498052.2:p.Arg317=
ENST00000343257.7:c.949C= MANE Select	ENSP00000339867.2:p.Arg317=
ENST00000432192.6:c.773C=
ENST00000455478.6:c.537C=	ENSP00000400027.2:n.537C=
ENST00000650516.1:c.949C=	ENSP00000498052.1:p.Arg317=
ENST00000343257.6:c.949C=	ENSP00000339867.2:p.Arg317=
ENST00000432192.5:c.463C=
ENST00000455478.5:c.541C=
ENST00000495612.1:n.250C=
NM_000083.2:c.949C=	NP_000074.2:p.Arg317=
NR_046453.1:n.1039C=
XM_011515781.1:c.949C=	XP_011514083.1:p.Arg317=
XM_017011739.1:c.499C=	XP_016867228.1:p.Arg167=
XM_017011740.1:c.499C=	XP_016867229.1:p.Arg167=
NM_000083.3:c.949C= MANE Select	NP_000074.3:p.Arg317=
NR_046453.2:n.1054C=