Canonical Allele Identifier: CA1748898264

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351648C= , CM000669.2:g.143351648C=	GRCh38
NC_000007.13:g.143048741C= , CM000669.1:g.143048741C=	GRCh37
NC_000007.12:g.142758863C=	NCBI36
NG_009815.1:g.40523C=
NG_009815.2:g.40523C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2650C=	ENSP00000498052.2:p.Leu884=
ENST00000343257.7:c.2650C= MANE Select	ENSP00000339867.2:p.Leu884=
ENST00000432192.6:c.2474C=
ENST00000343257.6:c.2650C=	ENSP00000339867.2:p.Leu884=
NM_000083.2:c.2650C=	NP_000074.2:p.Leu884=
NR_046453.1:n.2590C=
XM_011515781.1:c.2674C=	XP_011514083.1:p.Leu892=
XM_011515782.1:c.1396C=	XP_011514084.1:p.Leu466=
XM_011515782.2:c.1396C=	XP_011514084.1:p.Leu466=
XM_017011739.1:c.2224C=	XP_016867228.1:p.Leu742=
XM_017011740.1:c.2200C=	XP_016867229.1:p.Leu734=
NM_000083.3:c.2650C= MANE Select	NP_000074.3:p.Leu884=
NR_046453.2:n.2605C=