Canonical Allele Identifier: CA1748893980

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342094A= , CM000669.2:g.143342094A=	GRCh38
NC_000007.13:g.143039187A= , CM000669.1:g.143039187A=	GRCh37
NC_000007.12:g.142749309A=	NCBI36
NG_009815.1:g.30969A=
NG_009815.2:g.30969A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1748A=	ENSP00000498052.2:p.Gln583=
ENST00000343257.7:c.1748A= MANE Select	ENSP00000339867.2:p.Gln583=
ENST00000432192.6:c.1572A=
ENST00000343257.6:c.1748A=	ENSP00000339867.2:p.Gln583=
NM_000083.2:c.1748A=	NP_000074.2:p.Gln583=
NR_046453.1:n.1688A=
XM_011515781.1:c.1772A=	XP_011514083.1:p.Gln591=
XM_011515782.1:c.494A=	XP_011514084.1:p.Gln165=
XM_011515782.2:c.494A=	XP_011514084.1:p.Gln165=
XM_017011739.1:c.1322A=	XP_016867228.1:p.Gln441=
XM_017011740.1:c.1298A=	XP_016867229.1:p.Gln433=
NM_000083.3:c.1748A= MANE Select	NP_000074.3:p.Gln583=
NR_046453.2:n.1703A=