Canonical Allele Identifier: CA4537072

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323374C>G , CM000669.2:g.143323374C>G	GRCh38
NC_000007.13:g.143020467C>G , CM000669.1:g.143020467C>G	GRCh37
NC_000007.12:g.142730589C>G	NCBI36
NG_009815.1:g.12249C>G
NG_009815.2:g.12249C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.762C>G MANE Select	NP_000074.3:p.Cys254Trp
ENST00000343257.7:c.762C>G MANE Select	ENSP00000339867.2:p.Cys254Trp
NM_000083.2:c.762C>G	NP_000074.2:p.Cys254Trp
NR_046453.1:n.849C>G
NR_046453.2:n.864C>G
ENST00000343257.6:c.762C>G	ENSP00000339867.2:p.Cys254Trp
ENST00000432192.5:c.155-199C>G
ENST00000432192.6:c.465-199C>G
ENST00000455478.5:c.220C>G
ENST00000455478.6:c.216C>G	ENSP00000400027.2:p.Cys72Trp
ENST00000495612.1:n.154+1526C>G
ENST00000650516.1:c.762C>G	ENSP00000498052.1:p.Cys254Trp
ENST00000650516.2:c.762C>G	ENSP00000498052.2:p.Cys254Trp
XM_011515781.1:c.762C>G	XP_011514083.1:p.Cys254Trp
XM_017011739.1:c.403+1526C>G	XP_016867228.1:n.403+1526C>G
XM_017011740.1:c.403+1526C>G	XP_016867229.1:n.403+1526C>G