Canonical Allele Identifier: CA369686025

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321843A>G , CM000669.2:g.143321843A>G	GRCh38
NC_000007.13:g.143018936A>G , CM000669.1:g.143018936A>G	GRCh37
NC_000007.12:g.142729058A>G	NCBI36
NG_009815.1:g.10718A>G
NG_009815.2:g.10718A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.691A>G MANE Select	NP_000074.3:p.Lys231Glu
ENST00000343257.7:c.691A>G MANE Select	ENSP00000339867.2:p.Lys231Glu
NM_000083.2:c.691A>G	NP_000074.2:p.Lys231Glu
NR_046453.1:n.778A>G
NR_046453.2:n.793A>G
ENST00000343257.6:c.691A>G	ENSP00000339867.2:p.Lys231Glu
ENST00000432192.5:c.149A>G
ENST00000432192.6:c.459A>G
ENST00000455478.5:c.149A>G
ENST00000455478.6:c.145A>G	ENSP00000400027.2:p.Lys49Glu
ENST00000495612.1:n.149A>G
ENST00000650516.1:c.691A>G	ENSP00000498052.1:p.Lys231Glu
ENST00000650516.2:c.691A>G	ENSP00000498052.2:p.Lys231Glu
XM_011515781.1:c.691A>G	XP_011514083.1:p.Lys231Glu
XM_017011739.1:c.398A>G	XP_016867228.1:p.Glu133Gly
XM_017011740.1:c.398A>G	XP_016867229.1:p.Glu133Gly