Canonical Allele Identifier: CA1748894060

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342260T= , CM000669.2:g.143342260T=	GRCh38
NC_000007.13:g.143039353T= , CM000669.1:g.143039353T=	GRCh37
NC_000007.12:g.142749475T=	NCBI36
NG_009815.1:g.31135T=
NG_009815.2:g.31135T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-112T=	ENSP00000498052.2:n.1797-112T=
ENST00000343257.7:c.1797-112T= MANE Select	ENSP00000339867.2:n.1797-112T=
ENST00000432192.6:c.1621-112T=
ENST00000343257.6:c.1797-112T=	ENSP00000339867.2:n.1797-112T=
NM_000083.2:c.1797-112T=	NP_000074.2:n.1797-112T=
NR_046453.1:n.1737-112T=
XM_011515781.1:c.1821-112T=	XP_011514083.1:n.1821-112T=
XM_011515782.1:c.543-112T=	XP_011514084.1:n.543-112T=
XM_011515782.2:c.543-112T=	XP_011514084.1:n.543-112T=
XM_017011739.1:c.1371-112T=	XP_016867228.1:n.1371-112T=
XM_017011740.1:c.1347-112T=	XP_016867229.1:n.1347-112T=
NM_000083.3:c.1797-112T= MANE Select	NP_000074.3:n.1797-112T=
NR_046453.2:n.1752-112T=