Canonical Allele Identifier: CA2579050636

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324379T>G , CM000669.2:g.143324379T>G	GRCh38
NC_000007.13:g.143021472T>G , CM000669.1:g.143021472T>G	GRCh37
NC_000007.12:g.142731594T>G	NCBI36
NG_009815.1:g.13254T>G
NG_009815.2:g.13254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+482T>G	ENSP00000498052.2:n.853+482T>G
ENST00000343257.7:c.775-35T>G MANE Select	ENSP00000339867.2:n.775-35T>G
ENST00000432192.6:c.599-35T>G
ENST00000455478.6:c.363-35T>G	ENSP00000400027.2:n.363-35T>G
ENST00000650516.1:c.853+482T>G	ENSP00000498052.1:n.853+482T>G
ENST00000343257.6:c.775-35T>G	ENSP00000339867.2:n.775-35T>G
ENST00000432192.5:c.289-35T>G
ENST00000455478.5:c.367-35T>G
ENST00000495612.1:n.154+2531T>G
NM_000083.2:c.775-35T>G	NP_000074.2:n.775-35T>G
NR_046453.1:n.862-32T>G
XM_011515781.1:c.853+482T>G	XP_011514083.1:n.853+482T>G
XM_017011739.1:c.403+2531T>G	XP_016867228.1:n.403+2531T>G
XM_017011740.1:c.403+2531T>G	XP_016867229.1:n.403+2531T>G
NM_000083.3:c.775-35T>G MANE Select	NP_000074.3:n.775-35T>G
NR_046453.2:n.877-32T>G