Canonical Allele Identifier: CA369687541

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324451G>A , CM000669.2:g.143324451G>A	GRCh38
NC_000007.13:g.143021544G>A , CM000669.1:g.143021544G>A	GRCh37
NC_000007.12:g.142731666G>A	NCBI36
NG_009815.1:g.13326G>A
NG_009815.2:g.13326G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.812G>A MANE Select	NP_000074.3:p.Cys271Tyr
ENST00000343257.7:c.812G>A MANE Select	ENSP00000339867.2:p.Cys271Tyr
NM_000083.2:c.812G>A	NP_000074.2:p.Cys271Tyr
NR_046453.1:n.902G>A
NR_046453.2:n.917G>A
ENST00000343257.6:c.812G>A	ENSP00000339867.2:p.Cys271Tyr
ENST00000432192.5:c.326G>A
ENST00000432192.6:c.636G>A
ENST00000455478.5:c.404G>A
ENST00000455478.6:c.400G>A	ENSP00000400027.2:n.400G>A
ENST00000495612.1:n.154+2603G>A
ENST00000650516.1:c.853+554G>A	ENSP00000498052.1:n.853+554G>A
ENST00000650516.2:c.853+554G>A	ENSP00000498052.2:n.853+554G>A
XM_011515781.1:c.853+554G>A	XP_011514083.1:n.853+554G>A
XM_017011739.1:c.403+2603G>A	XP_016867228.1:n.403+2603G>A
XM_017011740.1:c.403+2603G>A	XP_016867229.1:n.403+2603G>A