Canonical Allele Identifier: CA1748888046

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321373T= , CM000669.2:g.143321373T=	GRCh38
NC_000007.13:g.143018466T= , CM000669.1:g.143018466T=	GRCh37
NC_000007.12:g.142728588T=	NCBI36
NG_009815.1:g.10248T=
NG_009815.2:g.10248T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.442T=	ENSP00000498052.2:p.Trp148=
ENST00000343257.7:c.442T= MANE Select	ENSP00000339867.2:p.Trp148=
ENST00000432192.6:c.210T=
ENST00000650516.1:c.442T=	ENSP00000498052.1:p.Trp148=
ENST00000343257.6:c.442T=	ENSP00000339867.2:p.Trp148=
NM_000083.2:c.442T=	NP_000074.2:p.Trp148=
NR_046453.1:n.529T=
XM_011515781.1:c.442T=	XP_011514083.1:p.Trp148=
XM_017011739.1:c.149T=	XP_016867228.1:p.Val50=
XM_017011740.1:c.149T=	XP_016867229.1:p.Val50=
NM_000083.3:c.442T= MANE Select	NP_000074.3:p.Trp148=
NR_046453.2:n.544T=