Canonical Allele Identifier: CA4537306

Gene: CLCN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332733dup , CM000669.2:g.143332733dup	GRCh38
NC_000007.13:g.143029826dup , CM000669.1:g.143029826dup	GRCh37
NC_000007.12:g.142739948dup	NCBI36
NG_009815.1:g.21608dup
NG_009815.2:g.21608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1261dup	ENSP00000498052.2:p.Arg421ProfsTer9
ENST00000343257.7:c.1261dup MANE Select	ENSP00000339867.2:p.Arg421ProfsTer9
ENST00000432192.6:c.1085dup
ENST00000343257.6:c.1261dup	ENSP00000339867.2:p.Arg421ProfsTer9
NM_000083.2:c.1261dup	NP_000074.2:p.Arg421ProfsTer9
NR_046453.1:n.1341+230dup
XM_011515781.1:c.1285dup	XP_011514083.1:p.Arg429ProfsTer9
XM_011515782.1:c.7dup	XP_011514084.1:p.Arg3ProfsTer9
XM_011515782.2:c.7dup	XP_011514084.1:p.Arg3ProfsTer9
XM_017011739.1:c.835dup	XP_016867228.1:p.Arg279ProfsTer9
XM_017011740.1:c.811dup	XP_016867229.1:p.Arg271ProfsTer9
NM_000083.3:c.1261dup MANE Select	NP_000074.3:p.Arg421ProfsTer9
NR_046453.2:n.1356+230dup