Canonical Allele Identifier: CA2740094895

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 3024208
• ClinVar RCV Id: RCV003883255

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321755dup , CM000669.2:g.143321755dup	GRCh38
NC_000007.13:g.143018848dup , CM000669.1:g.143018848dup	GRCh37
NC_000007.12:g.142728970dup	NCBI36
NG_009815.1:g.10630dup
NG_009815.2:g.10630dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.603dup	ENSP00000498052.2:p.Val202CysfsTer?
ENST00000343257.7:c.603dup MANE Select	ENSP00000339867.2:p.Val202CysfsTer?
ENST00000432192.6:c.371dup
ENST00000455478.6:c.57dup	ENSP00000400027.2:p.Val20CysfsTer?
ENST00000650516.1:c.603dup	ENSP00000498052.1:p.Val202CysfsTer?
ENST00000343257.6:c.603dup	ENSP00000339867.2:p.Val202CysfsTer?
ENST00000432192.5:c.61dup
ENST00000455478.5:c.61dup
ENST00000495612.1:n.61dup
NM_000083.2:c.603dup	NP_000074.2:p.Val202CysfsTer?
NR_046453.1:n.690dup
XM_011515781.1:c.603dup	XP_011514083.1:p.Val202CysfsTer?
XM_017011739.1:c.310dup	XP_016867228.1:p.Cys104LeufsTer3
XM_017011740.1:c.310dup	XP_016867229.1:p.Cys104LeufsTer3
NM_000083.3:c.603dup MANE Select	NP_000074.3:p.Val202CysfsTer?
NR_046453.2:n.705dup