Canonical Allele Identifier: CA1748898430

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351983C= , CM000669.2:g.143351983C=	GRCh38
NC_000007.13:g.143049076C= , CM000669.1:g.143049076C=	GRCh37
NC_000007.12:g.142759198C=	NCBI36
NG_009815.1:g.40858C=
NG_009815.2:g.40858C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*18C=	ENSP00000498052.2:n.*18C=
ENST00000343257.7:c.*18C= MANE Select	ENSP00000339867.2:n.*18C=
ENST00000343257.6:c.*18C=	ENSP00000339867.2:n.*18C=
NM_000083.2:c.*18C=	NP_000074.2:n.*18C=
NR_046453.1:n.2925C=
XM_011515781.1:c.*18C=	XP_011514083.1:n.*18C=
XM_011515782.1:c.*18C=	XP_011514084.1:n.*18C=
XM_011515782.2:c.*18C=	XP_011514084.1:n.*18C=
XM_017011739.1:c.*18C=	XP_016867228.1:n.*18C=
XM_017011740.1:c.*18C=	XP_016867229.1:n.*18C=
NM_000083.3:c.*18C= MANE Select	NP_000074.3:n.*18C=
NR_046453.2:n.2940C=