Canonical Allele Identifier: CA369646526

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342018C>T , CM000669.2:g.143342018C>T	GRCh38
NC_000007.13:g.143039111C>T , CM000669.1:g.143039111C>T	GRCh37
NC_000007.12:g.142749233C>T	NCBI36
NG_009815.1:g.30893C>T
NG_009815.2:g.30893C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1672C>T MANE Select	NP_000074.3:p.Pro558Ser
ENST00000343257.7:c.1672C>T MANE Select	ENSP00000339867.2:p.Pro558Ser
NM_000083.2:c.1672C>T	NP_000074.2:p.Pro558Ser
NR_046453.1:n.1612C>T
NR_046453.2:n.1627C>T
ENST00000343257.6:c.1672C>T	ENSP00000339867.2:p.Pro558Ser
ENST00000432192.6:c.1496C>T
ENST00000650516.2:c.1672C>T	ENSP00000498052.2:p.Pro558Ser
XM_011515781.1:c.1696C>T	XP_011514083.1:p.Pro566Ser
XM_011515782.1:c.418C>T	XP_011514084.1:p.Pro140Ser
XM_011515782.2:c.418C>T	XP_011514084.1:p.Pro140Ser
XM_017011739.1:c.1246C>T	XP_016867228.1:p.Pro416Ser
XM_017011740.1:c.1222C>T	XP_016867229.1:p.Pro408Ser