Canonical Allele Identifier: CA1748898391

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351907T= , CM000669.2:g.143351907T=	GRCh38
NC_000007.13:g.143049000T= , CM000669.1:g.143049000T=	GRCh37
NC_000007.12:g.142759122T=	NCBI36
NG_009815.1:g.40782T=
NG_009815.2:g.40782T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2909T=	ENSP00000498052.2:p.Leu970=
ENST00000343257.7:c.2909T= MANE Select	ENSP00000339867.2:p.Leu970=
ENST00000343257.6:c.2909T=	ENSP00000339867.2:p.Leu970=
NM_000083.2:c.2909T=	NP_000074.2:p.Leu970=
NR_046453.1:n.2849T=
XM_011515781.1:c.2933T=	XP_011514083.1:p.Leu978=
XM_011515782.1:c.1655T=	XP_011514084.1:p.Leu552=
XM_011515782.2:c.1655T=	XP_011514084.1:p.Leu552=
XM_017011739.1:c.2483T=	XP_016867228.1:p.Leu828=
XM_017011740.1:c.2459T=	XP_016867229.1:p.Leu820=
NM_000083.3:c.2909T= MANE Select	NP_000074.3:p.Leu970=
NR_046453.2:n.2864T=