Canonical Allele Identifier: CA1748897621

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350382G= , CM000669.2:g.143350382G=	GRCh38
NC_000007.13:g.143047475G= , CM000669.1:g.143047475G=	GRCh37
NC_000007.12:g.142757597G=	NCBI36
NG_009815.1:g.39257G=
NG_009815.2:g.39257G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2414G=	ENSP00000498052.2:p.Trp805=
ENST00000343257.7:c.2414G= MANE Select	ENSP00000339867.2:p.Trp805=
ENST00000432192.6:c.2238G=
ENST00000343257.6:c.2414G=	ENSP00000339867.2:p.Trp805=
NM_000083.2:c.2414G=	NP_000074.2:p.Trp805=
NR_046453.1:n.2354G=
XM_011515781.1:c.2438G=	XP_011514083.1:p.Trp813=
XM_011515782.1:c.1160G=	XP_011514084.1:p.Trp387=
XM_011515782.2:c.1160G=	XP_011514084.1:p.Trp387=
XM_017011739.1:c.1988G=	XP_016867228.1:p.Trp663=
XM_017011740.1:c.1964G=	XP_016867229.1:p.Trp655=
NM_000083.3:c.2414G= MANE Select	NP_000074.3:p.Trp805=
NR_046453.2:n.2369G=