Canonical Allele Identifier: CA369650151

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345648C>A , CM000669.2:g.143345648C>A	GRCh38
NC_000007.13:g.143042741C>A , CM000669.1:g.143042741C>A	GRCh37
NC_000007.12:g.142752863C>A	NCBI36
NG_009815.1:g.34523C>A
NG_009815.2:g.34523C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2058C>A MANE Select	NP_000074.3:p.Tyr686Ter
ENST00000343257.7:c.2058C>A MANE Select	ENSP00000339867.2:p.Tyr686Ter
NM_000083.2:c.2058C>A	NP_000074.2:p.Tyr686Ter
NR_046453.1:n.1998C>A
NR_046453.2:n.2013C>A
ENST00000343257.6:c.2058C>A	ENSP00000339867.2:p.Tyr686Ter
ENST00000432192.6:c.1882C>A
ENST00000650516.2:c.2058C>A	ENSP00000498052.2:p.Tyr686Ter
XM_011515781.1:c.2082C>A	XP_011514083.1:p.Tyr694Ter
XM_011515782.1:c.804C>A	XP_011514084.1:p.Tyr268Ter
XM_011515782.2:c.804C>A	XP_011514084.1:p.Tyr268Ter
XM_017011739.1:c.1632C>A	XP_016867228.1:p.Tyr544Ter
XM_017011740.1:c.1608C>A	XP_016867229.1:p.Tyr536Ter