Canonical Allele Identifier: CA369641496

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330777C>A , CM000669.2:g.143330777C>A	GRCh38
NC_000007.13:g.143027870C>A , CM000669.1:g.143027870C>A	GRCh37
NC_000007.12:g.142737992C>A	NCBI36
NG_009815.1:g.19652C>A
NG_009815.2:g.19652C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.859C>A MANE Select	NP_000074.3:p.Leu287Ile
ENST00000343257.7:c.859C>A MANE Select	ENSP00000339867.2:p.Leu287Ile
NM_000083.2:c.859C>A	NP_000074.2:p.Leu287Ile
NR_046453.1:n.949C>A
NR_046453.2:n.964C>A
ENST00000343257.6:c.859C>A	ENSP00000339867.2:p.Leu287Ile
ENST00000432192.5:c.373C>A
ENST00000432192.6:c.683C>A
ENST00000455478.5:c.451C>A
ENST00000455478.6:c.447C>A	ENSP00000400027.2:n.447C>A
ENST00000495612.1:n.160C>A
ENST00000650516.1:c.859C>A	ENSP00000498052.1:p.Leu287Ile
ENST00000650516.2:c.859C>A	ENSP00000498052.2:p.Leu287Ile
XM_011515781.1:c.859C>A	XP_011514083.1:p.Leu287Ile
XM_017011739.1:c.409C>A	XP_016867228.1:p.Leu137Ile
XM_017011740.1:c.409C>A	XP_016867229.1:p.Leu137Ile