Canonical Allele Identifier: CA1748894042

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342218A= , CM000669.2:g.143342218A=	GRCh38
NC_000007.13:g.143039311A= , CM000669.1:g.143039311A=	GRCh37
NC_000007.12:g.142749433A=	NCBI36
NG_009815.1:g.31093A=
NG_009815.2:g.31093A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+76A=	ENSP00000498052.2:n.1796+76A=
ENST00000343257.7:c.1796+76A= MANE Select	ENSP00000339867.2:n.1796+76A=
ENST00000432192.6:c.1620+76A=
ENST00000343257.6:c.1796+76A=	ENSP00000339867.2:n.1796+76A=
NM_000083.2:c.1796+76A=	NP_000074.2:n.1796+76A=
NR_046453.1:n.1736+76A=
XM_011515781.1:c.1820+76A=	XP_011514083.1:n.1820+76A=
XM_011515782.1:c.542+76A=	XP_011514084.1:n.542+76A=
XM_011515782.2:c.542+76A=	XP_011514084.1:n.542+76A=
XM_017011739.1:c.1370+76A=	XP_016867228.1:n.1370+76A=
XM_017011740.1:c.1346+76A=	XP_016867229.1:n.1346+76A=
NM_000083.3:c.1796+76A= MANE Select	NP_000074.3:n.1796+76A=
NR_046453.2:n.1751+76A=