Canonical Allele Identifier: CA369648179

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342500C>G , CM000669.2:g.143342500C>G	GRCh38
NC_000007.13:g.143039593C>G , CM000669.1:g.143039593C>G	GRCh37
NC_000007.12:g.142749715C>G	NCBI36
NG_009815.1:g.31375C>G
NG_009815.2:g.31375C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1925C>G MANE Select	NP_000074.3:p.Ser642Ter
ENST00000343257.7:c.1925C>G MANE Select	ENSP00000339867.2:p.Ser642Ter
NM_000083.2:c.1925C>G	NP_000074.2:p.Ser642Ter
NR_046453.1:n.1865C>G
NR_046453.2:n.1880C>G
ENST00000343257.6:c.1925C>G	ENSP00000339867.2:p.Ser642Ter
ENST00000432192.6:c.1749C>G
ENST00000650516.2:c.1925C>G	ENSP00000498052.2:p.Ser642Ter
XM_011515781.1:c.1949C>G	XP_011514083.1:p.Ser650Ter
XM_011515782.1:c.671C>G	XP_011514084.1:p.Ser224Ter
XM_011515782.2:c.671C>G	XP_011514084.1:p.Ser224Ter
XM_017011739.1:c.1499C>G	XP_016867228.1:p.Ser500Ter
XM_017011740.1:c.1475C>G	XP_016867229.1:p.Ser492Ter