Canonical Allele Identifier: CA1748898179

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351461C= , CM000669.2:g.143351461C=	GRCh38
NC_000007.13:g.143048554C= , CM000669.1:g.143048554C=	GRCh37
NC_000007.12:g.142758676C=	NCBI36
NG_009815.1:g.40336C=
NG_009815.2:g.40336C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-133C=	ENSP00000498052.2:n.2596-133C=
ENST00000343257.7:c.2596-133C= MANE Select	ENSP00000339867.2:n.2596-133C=
ENST00000432192.6:c.2420-133C=
ENST00000343257.6:c.2596-133C=	ENSP00000339867.2:n.2596-133C=
NM_000083.2:c.2596-133C=	NP_000074.2:n.2596-133C=
NR_046453.1:n.2536-133C=
XM_011515781.1:c.2620-133C=	XP_011514083.1:n.2620-133C=
XM_011515782.1:c.1342-133C=	XP_011514084.1:n.1342-133C=
XM_011515782.2:c.1342-133C=	XP_011514084.1:n.1342-133C=
XM_017011739.1:c.2170-133C=	XP_016867228.1:n.2170-133C=
XM_017011740.1:c.2146-133C=	XP_016867229.1:n.2146-133C=
NM_000083.3:c.2596-133C= MANE Select	NP_000074.3:n.2596-133C=
NR_046453.2:n.2551-133C=