Canonical Allele Identifier: CA3149180893

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321374G= , CM000669.2:g.143321374G=	GRCh38
NC_000007.13:g.143018467G= , CM000669.1:g.143018467G=	GRCh37
NC_000007.12:g.142728589G=	NCBI36
NG_009815.1:g.10249G=
NG_009815.2:g.10249G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.443G= MANE Select	NP_000074.3:p.Trp148=
ENST00000343257.7:c.443G= MANE Select	ENSP00000339867.2:p.Trp148=
NM_000083.2:c.443G=	NP_000074.2:p.Trp148=
NR_046453.1:n.530G=
NR_046453.2:n.545G=
ENST00000343257.6:c.443G=	ENSP00000339867.2:p.Trp148=
ENST00000432192.6:c.211G=
ENST00000650516.1:c.443G=	ENSP00000498052.1:p.Trp148=
ENST00000650516.2:c.443G=	ENSP00000498052.2:p.Trp148=
XM_011515781.1:c.443G=	XP_011514083.1:p.Trp148=
XM_017011739.1:c.150G=	XP_016867228.1:p.Val50=
XM_017011740.1:c.150G=	XP_016867229.1:p.Val50=