Canonical Allele Identifier: CA1748889762

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332744C= , CM000669.2:g.143332744C=	GRCh38
NC_000007.13:g.143029837C= , CM000669.1:g.143029837C=	GRCh37
NC_000007.12:g.142739959C=	NCBI36
NG_009815.1:g.21619C=
NG_009815.2:g.21619C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1272C=	ENSP00000498052.2:p.Ile424=
ENST00000343257.7:c.1272C= MANE Select	ENSP00000339867.2:p.Ile424=
ENST00000432192.6:c.1096C=
ENST00000343257.6:c.1272C=	ENSP00000339867.2:p.Ile424=
NM_000083.2:c.1272C=	NP_000074.2:p.Ile424=
NR_046453.1:n.1341+241C=
XM_011515781.1:c.1296C=	XP_011514083.1:p.Ile432=
XM_011515782.1:c.18C=	XP_011514084.1:p.Ile6=
XM_011515782.2:c.18C=	XP_011514084.1:p.Ile6=
XM_017011739.1:c.846C=	XP_016867228.1:p.Ile282=
XM_017011740.1:c.822C=	XP_016867229.1:p.Ile274=
NM_000083.3:c.1272C= MANE Select	NP_000074.3:p.Ile424=
NR_046453.2:n.1356+241C=