Canonical Allele Identifier: CA1748884253

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324467C= , CM000669.2:g.143324467C=	GRCh38
NC_000007.13:g.143021560C= , CM000669.1:g.143021560C=	GRCh37
NC_000007.12:g.142731682C=	NCBI36
NG_009815.1:g.13342C=
NG_009815.2:g.13342C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+570C=	ENSP00000498052.2:n.853+570C=
ENST00000343257.7:c.828C= MANE Select	ENSP00000339867.2:p.Gly276=
ENST00000432192.6:c.652C=
ENST00000455478.6:c.416C=	ENSP00000400027.2:n.416C=
ENST00000650516.1:c.853+570C=	ENSP00000498052.1:n.853+570C=
ENST00000343257.6:c.828C=	ENSP00000339867.2:p.Gly276=
ENST00000432192.5:c.342C=
ENST00000455478.5:c.420C=
ENST00000495612.1:n.154+2619C=
NM_000083.2:c.828C=	NP_000074.2:p.Gly276=
NR_046453.1:n.918C=
XM_011515781.1:c.853+570C=	XP_011514083.1:n.853+570C=
XM_017011739.1:c.403+2619C=	XP_016867228.1:n.403+2619C=
XM_017011740.1:c.403+2619C=	XP_016867229.1:n.403+2619C=
NM_000083.3:c.828C= MANE Select	NP_000074.3:p.Gly276=
NR_046453.2:n.933C=