Canonical Allele Identifier: CA1748894005

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342149G= , CM000669.2:g.143342149G=	GRCh38
NC_000007.13:g.143039242G= , CM000669.1:g.143039242G=	GRCh37
NC_000007.12:g.142749364G=	NCBI36
NG_009815.1:g.31024G=
NG_009815.2:g.31024G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+7G=	ENSP00000498052.2:n.1796+7G=
ENST00000343257.7:c.1796+7G= MANE Select	ENSP00000339867.2:n.1796+7G=
ENST00000432192.6:c.1620+7G=
ENST00000343257.6:c.1796+7G=	ENSP00000339867.2:n.1796+7G=
NM_000083.2:c.1796+7G=	NP_000074.2:n.1796+7G=
NR_046453.1:n.1736+7G=
XM_011515781.1:c.1820+7G=	XP_011514083.1:n.1820+7G=
XM_011515782.1:c.542+7G=	XP_011514084.1:n.542+7G=
XM_011515782.2:c.542+7G=	XP_011514084.1:n.542+7G=
XM_017011739.1:c.1370+7G=	XP_016867228.1:n.1370+7G=
XM_017011740.1:c.1346+7G=	XP_016867229.1:n.1346+7G=
NM_000083.3:c.1796+7G= MANE Select	NP_000074.3:n.1796+7G=
NR_046453.2:n.1751+7G=