Canonical Allele Identifier: CA1748893911

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341944C= , CM000669.2:g.143341944C=	GRCh38
NC_000007.13:g.143039037C= , CM000669.1:g.143039037C=	GRCh37
NC_000007.12:g.142749159C=	NCBI36
NG_009815.1:g.30819C=
NG_009815.2:g.30819C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1598C=	ENSP00000498052.2:p.Thr533=
ENST00000343257.7:c.1598C= MANE Select	ENSP00000339867.2:p.Thr533=
ENST00000432192.6:c.1422C=
ENST00000343257.6:c.1598C=	ENSP00000339867.2:p.Thr533=
NM_000083.2:c.1598C=	NP_000074.2:p.Thr533=
NR_046453.1:n.1538C=
XM_011515781.1:c.1622C=	XP_011514083.1:p.Thr541=
XM_011515782.1:c.344C=	XP_011514084.1:p.Thr115=
XM_011515782.2:c.344C=	XP_011514084.1:p.Thr115=
XM_017011739.1:c.1172C=	XP_016867228.1:p.Thr391=
XM_017011740.1:c.1148C=	XP_016867229.1:p.Thr383=
NM_000083.3:c.1598C= MANE Select	NP_000074.3:p.Thr533=
NR_046453.2:n.1553C=