Canonical Allele Identifier: CA1748892880

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339534G= , CM000669.2:g.143339534G=	GRCh38
NC_000007.13:g.143036627G= , CM000669.1:g.143036627G=	GRCh37
NC_000007.12:g.142746749G=	NCBI36
NG_009815.1:g.28409G=
NG_009815.2:g.28409G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1495G= MANE Select	NP_000074.3:p.Gly499=
ENST00000343257.7:c.1495G= MANE Select	ENSP00000339867.2:p.Gly499=
NM_000083.2:c.1495G=	NP_000074.2:p.Gly499=
NR_046453.1:n.1435G=
NR_046453.2:n.1450G=
ENST00000343257.6:c.1495G=	ENSP00000339867.2:p.Gly499=
ENST00000432192.6:c.1319G=
ENST00000650516.2:c.1495G=	ENSP00000498052.2:p.Gly499=
XM_011515781.1:c.1519G=	XP_011514083.1:p.Gly507=
XM_011515782.1:c.241G=	XP_011514084.1:p.Gly81=
XM_011515782.2:c.241G=	XP_011514084.1:p.Gly81=
XM_017011739.1:c.1069G=	XP_016867228.1:p.Gly357=
XM_017011740.1:c.1045G=	XP_016867229.1:p.Gly349=