Canonical Allele Identifier: CA369641709

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330877C>T , CM000669.2:g.143330877C>T	GRCh38
NC_000007.13:g.143027970C>T , CM000669.1:g.143027970C>T	GRCh37
NC_000007.12:g.142738092C>T	NCBI36
NG_009815.1:g.19752C>T
NG_009815.2:g.19752C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.959C>T MANE Select	NP_000074.3:p.Ala320Val
ENST00000343257.7:c.959C>T MANE Select	ENSP00000339867.2:p.Ala320Val
NM_000083.2:c.959C>T	NP_000074.2:p.Ala320Val
NR_046453.1:n.1049C>T
NR_046453.2:n.1064C>T
ENST00000343257.6:c.959C>T	ENSP00000339867.2:p.Ala320Val
ENST00000432192.5:c.473C>T
ENST00000432192.6:c.783C>T
ENST00000455478.5:c.551C>T
ENST00000455478.6:c.547C>T	ENSP00000400027.2:n.547C>T
ENST00000495612.1:n.260C>T
ENST00000650516.1:c.959C>T	ENSP00000498052.1:p.Ala320Val
ENST00000650516.2:c.959C>T	ENSP00000498052.2:p.Ala320Val
XM_011515781.1:c.959C>T	XP_011514083.1:p.Ala320Val
XM_017011739.1:c.509C>T	XP_016867228.1:p.Ala170Val
XM_017011740.1:c.509C>T	XP_016867229.1:p.Ala170Val