Canonical Allele Identifier: CA369641591

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330823A>G , CM000669.2:g.143330823A>G	GRCh38
NC_000007.13:g.143027916A>G , CM000669.1:g.143027916A>G	GRCh37
NC_000007.12:g.142738038A>G	NCBI36
NG_009815.1:g.19698A>G
NG_009815.2:g.19698A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.905A>G MANE Select	NP_000074.3:p.Tyr302Cys
ENST00000343257.7:c.905A>G MANE Select	ENSP00000339867.2:p.Tyr302Cys
NM_000083.2:c.905A>G	NP_000074.2:p.Tyr302Cys
NR_046453.1:n.995A>G
NR_046453.2:n.1010A>G
ENST00000343257.6:c.905A>G	ENSP00000339867.2:p.Tyr302Cys
ENST00000432192.5:c.419A>G
ENST00000432192.6:c.729A>G
ENST00000455478.5:c.497A>G
ENST00000455478.6:c.493A>G	ENSP00000400027.2:n.493A>G
ENST00000495612.1:n.206A>G
ENST00000650516.1:c.905A>G	ENSP00000498052.1:p.Tyr302Cys
ENST00000650516.2:c.905A>G	ENSP00000498052.2:p.Tyr302Cys
XM_011515781.1:c.905A>G	XP_011514083.1:p.Tyr302Cys
XM_017011739.1:c.455A>G	XP_016867228.1:p.Tyr152Cys
XM_017011740.1:c.455A>G	XP_016867229.1:p.Tyr152Cys