Canonical Allele Identifier: CA1748893918

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341953T= , CM000669.2:g.143341953T=	GRCh38
NC_000007.13:g.143039046T= , CM000669.1:g.143039046T=	GRCh37
NC_000007.12:g.142749168T=	NCBI36
NG_009815.1:g.30828T=
NG_009815.2:g.30828T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1607T=	ENSP00000498052.2:p.Val536=
ENST00000343257.7:c.1607T= MANE Select	ENSP00000339867.2:p.Val536=
ENST00000432192.6:c.1431T=
ENST00000343257.6:c.1607T=	ENSP00000339867.2:p.Val536=
NM_000083.2:c.1607T=	NP_000074.2:p.Val536=
NR_046453.1:n.1547T=
XM_011515781.1:c.1631T=	XP_011514083.1:p.Val544=
XM_011515782.1:c.353T=	XP_011514084.1:p.Val118=
XM_011515782.2:c.353T=	XP_011514084.1:p.Val118=
XM_017011739.1:c.1181T=	XP_016867228.1:p.Val394=
XM_017011740.1:c.1157T=	XP_016867229.1:p.Val386=
NM_000083.3:c.1607T= MANE Select	NP_000074.3:p.Val536=
NR_046453.2:n.1562T=