Canonical Allele Identifier: CA369641761

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331230A>G , CM000669.2:g.143331230A>G	GRCh38
NC_000007.13:g.143028323A>G , CM000669.1:g.143028323A>G	GRCh37
NC_000007.12:g.142738445A>G	NCBI36
NG_009815.1:g.20105A>G
NG_009815.2:g.20105A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.980-2A>G MANE Select	NP_000074.3:n.980-2A>G
ENST00000343257.7:c.980-2A>G MANE Select	ENSP00000339867.2:n.980-2A>G
NM_000083.2:c.980-2A>G	NP_000074.2:n.980-2A>G
NR_046453.1:n.1070-2A>G
NR_046453.2:n.1085-2A>G
ENST00000343257.6:c.980-2A>G	ENSP00000339867.2:n.980-2A>G
ENST00000432192.6:c.804-2A>G
ENST00000650516.2:c.980-2A>G	ENSP00000498052.2:n.980-2A>G
XM_011515781.1:c.980-2A>G	XP_011514083.1:n.980-2A>G
XM_017011739.1:c.530-2A>G	XP_016867228.1:n.530-2A>G
XM_017011740.1:c.530-2A>G	XP_016867229.1:n.530-2A>G