Canonical Allele Identifier: CA1748881888

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321837G= , CM000669.2:g.143321837G=	GRCh38
NC_000007.13:g.143018930G= , CM000669.1:g.143018930G=	GRCh37
NC_000007.12:g.142729052G=	NCBI36
NG_009815.1:g.10712G=
NG_009815.2:g.10712G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.685G=	ENSP00000498052.2:p.Val229=
ENST00000343257.7:c.685G= MANE Select	ENSP00000339867.2:p.Val229=
ENST00000432192.6:c.453G=
ENST00000455478.6:c.139G=	ENSP00000400027.2:p.Val47=
ENST00000650516.1:c.685G=	ENSP00000498052.1:p.Val229=
ENST00000343257.6:c.685G=	ENSP00000339867.2:p.Val229=
ENST00000432192.5:c.143G=
ENST00000455478.5:c.143G=
ENST00000495612.1:n.143G=
NM_000083.2:c.685G=	NP_000074.2:p.Val229=
NR_046453.1:n.772G=
XM_011515781.1:c.685G=	XP_011514083.1:p.Val229=
XM_017011739.1:c.392G=	XP_016867228.1:p.Arg131=
XM_017011740.1:c.392G=	XP_016867229.1:p.Arg131=
NM_000083.3:c.685G= MANE Select	NP_000074.3:p.Val229=
NR_046453.2:n.787G=