Canonical Allele Identifier: CA1748881661

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321729G= , CM000669.2:g.143321729G=	GRCh38
NC_000007.13:g.143018822G= , CM000669.1:g.143018822G=	GRCh37
NC_000007.12:g.142728944G=	NCBI36
NG_009815.1:g.10604G=
NG_009815.2:g.10604G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.577G= MANE Select	NP_000074.3:p.Glu193=
ENST00000343257.7:c.577G= MANE Select	ENSP00000339867.2:p.Glu193=
NM_000083.2:c.577G=	NP_000074.2:p.Glu193=
NR_046453.1:n.664G=
NR_046453.2:n.679G=
ENST00000343257.6:c.577G=	ENSP00000339867.2:p.Glu193=
ENST00000432192.5:c.35G=
ENST00000432192.6:c.345G=
ENST00000455478.5:c.35G=
ENST00000455478.6:c.31G=	ENSP00000400027.2:p.Glu11=
ENST00000495612.1:n.35G=
ENST00000650516.1:c.577G=	ENSP00000498052.1:p.Glu193=
ENST00000650516.2:c.577G=	ENSP00000498052.2:p.Glu193=
XM_011515781.1:c.577G=	XP_011514083.1:p.Glu193=
XM_017011739.1:c.284G=	XP_016867228.1:p.Arg95=
XM_017011740.1:c.284G=	XP_016867229.1:p.Arg95=