Canonical Allele Identifier: CA168224771

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342451C>T , CM000669.2:g.143342451C>T	GRCh38
NC_000007.13:g.143039544C>T , CM000669.1:g.143039544C>T	GRCh37
NC_000007.12:g.142749666C>T	NCBI36
NG_009815.1:g.31326C>T
NG_009815.2:g.31326C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1876C>T MANE Select	NP_000074.3:p.Arg626Ter
ENST00000343257.7:c.1876C>T MANE Select	ENSP00000339867.2:p.Arg626Ter
NM_000083.2:c.1876C>T	NP_000074.2:p.Arg626Ter
NR_046453.1:n.1816C>T
NR_046453.2:n.1831C>T
ENST00000343257.6:c.1876C>T	ENSP00000339867.2:p.Arg626Ter
ENST00000432192.6:c.1700C>T
ENST00000650516.2:c.1876C>T	ENSP00000498052.2:p.Arg626Ter
XM_011515781.1:c.1900C>T	XP_011514083.1:p.Arg634Ter
XM_011515782.1:c.622C>T	XP_011514084.1:p.Arg208Ter
XM_011515782.2:c.622C>T	XP_011514084.1:p.Arg208Ter
XM_017011739.1:c.1450C>T	XP_016867228.1:p.Arg484Ter
XM_017011740.1:c.1426C>T	XP_016867229.1:p.Arg476Ter