Canonical Allele Identifier: CA4536912

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143320675C>T , CM000669.2:g.143320675C>T	GRCh38
NC_000007.13:g.143017768C>T , CM000669.1:g.143017768C>T	GRCh37
NC_000007.12:g.142727890C>T	NCBI36
NG_009815.1:g.9550C>T
NG_009815.2:g.9550C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.313C>T MANE Select	NP_000074.3:p.Arg105Cys
ENST00000343257.7:c.313C>T MANE Select	ENSP00000339867.2:p.Arg105Cys
NM_000083.2:c.313C>T	NP_000074.2:p.Arg105Cys
NR_046453.1:n.400C>T
NR_046453.2:n.415C>T
ENST00000343257.6:c.313C>T	ENSP00000339867.2:p.Arg105Cys
ENST00000432192.6:c.81C>T
ENST00000650516.1:c.313C>T	ENSP00000498052.1:p.Arg105Cys
ENST00000650516.2:c.313C>T	ENSP00000498052.2:p.Arg105Cys
XM_011515781.1:c.313C>T	XP_011514083.1:p.Arg105Cys
XM_017011739.1:c.20C>T	XP_016867228.1:p.Pro7Leu
XM_017011740.1:c.20C>T	XP_016867229.1:p.Pro7Leu