Canonical Allele Identifier: CA369649885

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143345604C>G , CM000669.2:g.143345604C>G	GRCh38
NC_000007.13:g.143042697C>G , CM000669.1:g.143042697C>G	GRCh37
NC_000007.12:g.142752819C>G	NCBI36
NG_009815.1:g.34479C>G
NG_009815.2:g.34479C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2014C>G MANE Select	NP_000074.3:p.Arg672Gly
ENST00000343257.7:c.2014C>G MANE Select	ENSP00000339867.2:p.Arg672Gly
NM_000083.2:c.2014C>G	NP_000074.2:p.Arg672Gly
NR_046453.1:n.1954C>G
NR_046453.2:n.1969C>G
ENST00000343257.6:c.2014C>G	ENSP00000339867.2:p.Arg672Gly
ENST00000432192.6:c.1838C>G
ENST00000650516.2:c.2014C>G	ENSP00000498052.2:p.Arg672Gly
XM_011515781.1:c.2038C>G	XP_011514083.1:p.Arg680Gly
XM_011515782.1:c.760C>G	XP_011514084.1:p.Arg254Gly
XM_011515782.2:c.760C>G	XP_011514084.1:p.Arg254Gly
XM_017011739.1:c.1588C>G	XP_016867228.1:p.Arg530Gly
XM_017011740.1:c.1564C>G	XP_016867229.1:p.Arg522Gly