Canonical Allele Identifier: CA1748888897

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330790A= , CM000669.2:g.143330790A=	GRCh38
NC_000007.13:g.143027883A= , CM000669.1:g.143027883A=	GRCh37
NC_000007.12:g.142738005A=	NCBI36
NG_009815.1:g.19665A=
NG_009815.2:g.19665A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.872A=	ENSP00000498052.2:p.Glu291=
ENST00000343257.7:c.872A= MANE Select	ENSP00000339867.2:p.Glu291=
ENST00000432192.6:c.696A=
ENST00000455478.6:c.460A=	ENSP00000400027.2:n.460A=
ENST00000650516.1:c.872A=	ENSP00000498052.1:p.Glu291=
ENST00000343257.6:c.872A=	ENSP00000339867.2:p.Glu291=
ENST00000432192.5:c.386A=
ENST00000455478.5:c.464A=
ENST00000495612.1:n.173A=
NM_000083.2:c.872A=	NP_000074.2:p.Glu291=
NR_046453.1:n.962A=
XM_011515781.1:c.872A=	XP_011514083.1:p.Glu291=
XM_017011739.1:c.422A=	XP_016867228.1:p.Glu141=
XM_017011740.1:c.422A=	XP_016867229.1:p.Glu141=
NM_000083.3:c.872A= MANE Select	NP_000074.3:p.Glu291=
NR_046453.2:n.977A=