Canonical Allele Identifier: CA1748884079

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324347G= , CM000669.2:g.143324347G=	GRCh38
NC_000007.13:g.143021440G= , CM000669.1:g.143021440G=	GRCh37
NC_000007.12:g.142731562G=	NCBI36
NG_009815.1:g.13222G=
NG_009815.2:g.13222G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+450G=	ENSP00000498052.2:n.853+450G=
ENST00000343257.7:c.775-67G= MANE Select	ENSP00000339867.2:n.775-67G=
ENST00000432192.6:c.599-67G=
ENST00000455478.6:c.363-67G=	ENSP00000400027.2:n.363-67G=
ENST00000650516.1:c.853+450G=	ENSP00000498052.1:n.853+450G=
ENST00000343257.6:c.775-67G=	ENSP00000339867.2:n.775-67G=
ENST00000432192.5:c.289-67G=
ENST00000455478.5:c.367-67G=
ENST00000495612.1:n.154+2499G=
NM_000083.2:c.775-67G=	NP_000074.2:n.775-67G=
NR_046453.1:n.862-64G=
XM_011515781.1:c.853+450G=	XP_011514083.1:n.853+450G=
XM_017011739.1:c.403+2499G=	XP_016867228.1:n.403+2499G=
XM_017011740.1:c.403+2499G=	XP_016867229.1:n.403+2499G=
NM_000083.3:c.775-67G= MANE Select	NP_000074.3:n.775-67G=
NR_046453.2:n.877-64G=