Canonical Allele Identifier: CA4537497

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342407G>A , CM000669.2:g.143342407G>A	GRCh38
NC_000007.13:g.143039500G>A , CM000669.1:g.143039500G>A	GRCh37
NC_000007.12:g.142749622G>A	NCBI36
NG_009815.1:g.31282G>A
NG_009815.2:g.31282G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1832G>A MANE Select	NP_000074.3:p.Arg611His
ENST00000343257.7:c.1832G>A MANE Select	ENSP00000339867.2:p.Arg611His
NM_000083.2:c.1832G>A	NP_000074.2:p.Arg611His
NR_046453.1:n.1772G>A
NR_046453.2:n.1787G>A
ENST00000343257.6:c.1832G>A	ENSP00000339867.2:p.Arg611His
ENST00000432192.6:c.1656G>A
ENST00000650516.2:c.1832G>A	ENSP00000498052.2:p.Arg611His
XM_011515781.1:c.1856G>A	XP_011514083.1:p.Arg619His
XM_011515782.1:c.578G>A	XP_011514084.1:p.Arg193His
XM_011515782.2:c.578G>A	XP_011514084.1:p.Arg193His
XM_017011739.1:c.1406G>A	XP_016867228.1:p.Arg469His
XM_017011740.1:c.1382G>A	XP_016867229.1:p.Arg461His