Canonical Allele Identifier: CA1748888036

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321370A= , CM000669.2:g.143321370A=	GRCh38
NC_000007.13:g.143018463A= , CM000669.1:g.143018463A=	GRCh37
NC_000007.12:g.142728585A=	NCBI36
NG_009815.1:g.10245A=
NG_009815.2:g.10245A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.439A=	ENSP00000498052.2:p.Lys147=
ENST00000343257.7:c.439A= MANE Select	ENSP00000339867.2:p.Lys147=
ENST00000432192.6:c.207A=
ENST00000650516.1:c.439A=	ENSP00000498052.1:p.Lys147=
ENST00000343257.6:c.439A=	ENSP00000339867.2:p.Lys147=
NM_000083.2:c.439A=	NP_000074.2:p.Lys147=
NR_046453.1:n.526A=
XM_011515781.1:c.439A=	XP_011514083.1:p.Lys147=
XM_017011739.1:c.146A=	XP_016867228.1:p.Gln49=
XM_017011740.1:c.146A=	XP_016867229.1:p.Gln49=
NM_000083.3:c.439A= MANE Select	NP_000074.3:p.Lys147=
NR_046453.2:n.541A=