Canonical Allele Identifier: CA2685378645

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 3024202
• ClinVar RCV Id: RCV003883249
• gnomAD v4: 7-143330806-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330809del , CM000669.2:g.143330809del	GRCh38
NC_000007.13:g.143027902del , CM000669.1:g.143027902del	GRCh37
NC_000007.12:g.142738024del	NCBI36
NG_009815.1:g.19684del
NG_009815.2:g.19684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.891del	ENSP00000498052.2:p.Phe297LeufsTer?
ENST00000343257.7:c.891del MANE Select	ENSP00000339867.2:p.Phe297LeufsTer?
ENST00000432192.6:c.715del
ENST00000455478.6:c.479del	ENSP00000400027.2:n.479del
ENST00000650516.1:c.891del	ENSP00000498052.1:p.Phe297LeufsTer?
ENST00000343257.6:c.891del	ENSP00000339867.2:p.Phe297LeufsTer?
ENST00000432192.5:c.405del
ENST00000455478.5:c.483del
ENST00000495612.1:n.192del
NM_000083.2:c.891del	NP_000074.2:p.Phe297LeufsTer?
NR_046453.1:n.981del
XM_011515781.1:c.891del	XP_011514083.1:p.Phe297LeufsTer?
XM_017011739.1:c.441del	XP_016867228.1:p.Phe147LeufsTer?
XM_017011740.1:c.441del	XP_016867229.1:p.Phe147LeufsTer?
NM_000083.3:c.891del MANE Select	NP_000074.3:p.Phe297LeufsTer?
NR_046453.2:n.996del