Canonical Allele Identifier: CA369681657

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143320673A>G , CM000669.2:g.143320673A>G	GRCh38
NC_000007.13:g.143017766A>G , CM000669.1:g.143017766A>G	GRCh37
NC_000007.12:g.142727888A>G	NCBI36
NG_009815.1:g.9548A>G
NG_009815.2:g.9548A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.311A>G MANE Select	NP_000074.3:p.His104Arg
ENST00000343257.7:c.311A>G MANE Select	ENSP00000339867.2:p.His104Arg
NM_000083.2:c.311A>G	NP_000074.2:p.His104Arg
NR_046453.1:n.398A>G
NR_046453.2:n.413A>G
ENST00000343257.6:c.311A>G	ENSP00000339867.2:p.His104Arg
ENST00000432192.6:c.79A>G
ENST00000650516.1:c.311A>G	ENSP00000498052.1:p.His104Arg
ENST00000650516.2:c.311A>G	ENSP00000498052.2:p.His104Arg
XM_011515781.1:c.311A>G	XP_011514083.1:p.His104Arg
XM_017011739.1:c.18A>G	XP_016867228.1:p.Pro6=
XM_017011740.1:c.18A>G	XP_016867229.1:p.Pro6=