Canonical Allele Identifier: CA458280534

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802700751
• MyVariant Identifiers: chr7:g.143027890C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330797C>T , CM000669.2:g.143330797C>T	GRCh38
NC_000007.13:g.143027890C>T , CM000669.1:g.143027890C>T	GRCh37
NC_000007.12:g.142738012C>T	NCBI36
NG_009815.1:g.19672C>T
NG_009815.2:g.19672C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.879C>T	ENSP00000498052.2:p.Thr293=
ENST00000343257.7:c.879C>T MANE Select	ENSP00000339867.2:p.Thr293=
ENST00000432192.6:c.703C>T
ENST00000455478.6:c.467C>T	ENSP00000400027.2:n.467C>T
ENST00000650516.1:c.879C>T	ENSP00000498052.1:p.Thr293=
ENST00000343257.6:c.879C>T	ENSP00000339867.2:p.Thr293=
ENST00000432192.5:c.393C>T
ENST00000455478.5:c.471C>T
ENST00000495612.1:n.180C>T
NM_000083.2:c.879C>T	NP_000074.2:p.Thr293=
NR_046453.1:n.969C>T
XM_011515781.1:c.879C>T	XP_011514083.1:p.Thr293=
XM_017011739.1:c.429C>T	XP_016867228.1:p.Thr143=
XM_017011740.1:c.429C>T	XP_016867229.1:p.Thr143=
NM_000083.3:c.879C>T MANE Select	NP_000074.3:p.Thr293=
NR_046453.2:n.984C>T