Canonical Allele Identifier: CA1748889042

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802710965

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331062dup , CM000669.2:g.143331062dup	GRCh38
NC_000007.13:g.143028155dup , CM000669.1:g.143028155dup	GRCh37
NC_000007.12:g.142738277dup	NCBI36
NG_009815.1:g.19937dup
NG_009815.2:g.19937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+165dup	ENSP00000498052.2:n.979+165dup
ENST00000343257.7:c.979+165dup MANE Select	ENSP00000339867.2:n.979+165dup
ENST00000432192.6:c.803+165dup
ENST00000343257.6:c.979+165dup	ENSP00000339867.2:n.979+165dup
NM_000083.2:c.979+165dup	NP_000074.2:n.979+165dup
NR_046453.1:n.1069+165dup
XM_011515781.1:c.979+165dup	XP_011514083.1:n.979+165dup
XM_017011739.1:c.529+165dup	XP_016867228.1:n.529+165dup
XM_017011740.1:c.529+165dup	XP_016867229.1:n.529+165dup
NM_000083.3:c.979+165dup MANE Select	NP_000074.3:n.979+165dup
NR_046453.2:n.1084+165dup