Canonical Allele Identifier: CA458293530

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143320716G>A , CM000669.2:g.143320716G>A	GRCh38
NC_000007.13:g.143017809G>A , CM000669.1:g.143017809G>A	GRCh37
NC_000007.12:g.142727931G>A	NCBI36
NG_009815.1:g.9591G>A
NG_009815.2:g.9591G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.354G>A MANE Select	NP_000074.3:p.Gly118=
ENST00000343257.7:c.354G>A MANE Select	ENSP00000339867.2:p.Gly118=
NM_000083.2:c.354G>A	NP_000074.2:p.Trp118Ter
NR_046453.1:n.441G>A
NR_046453.2:n.456G>A
ENST00000343257.6:c.354G>A	ENSP00000339867.2:p.Gly118=
ENST00000432192.6:c.122G>A
ENST00000650516.1:c.354G>A	ENSP00000498052.1:p.Gly118=
ENST00000650516.2:c.354G>A	ENSP00000498052.2:p.Gly118=
XM_011515781.1:c.354G>A	XP_011514083.1:p.Gly118=
XM_017011739.1:c.61G>A	XP_016867228.1:p.Asp21Asn
XM_017011740.1:c.61G>A	XP_016867229.1:p.Asp21Asn