Canonical Allele Identifier: CA658657735

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 462831
• ClinVar RCV Id: RCV000546329 ; RCV001382363
• dbSNP Id: rs1554434794
• gnomAD v4: 7-143321398-GC-G
• MyVariant Identifiers: chr7:g.143018493del (hg19) ; chr7:g.143321400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321400del , CM000669.2:g.143321400del	GRCh38
NC_000007.13:g.143018493del , CM000669.1:g.143018493del	GRCh37
NC_000007.12:g.142728615del	NCBI36
NG_009815.1:g.10275del
NG_009815.2:g.10275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.469del	ENSP00000498052.2:p.Leu157PhefsTer13
ENST00000343257.7:c.469del MANE Select	ENSP00000339867.2:p.Leu157PhefsTer13
ENST00000432192.6:c.237del
ENST00000650516.1:c.469del	ENSP00000498052.1:p.Leu157PhefsTer13
ENST00000343257.6:c.469del	ENSP00000339867.2:p.Leu157PhefsTer13
NM_000083.2:c.469del	NP_000074.2:p.Leu157PhefsTer13
NR_046453.1:n.556del
XM_011515781.1:c.469del	XP_011514083.1:p.Leu157PhefsTer13
XM_017011739.1:c.176del	XP_016867228.1:p.Pro59LeufsTer?
XM_017011740.1:c.176del	XP_016867229.1:p.Pro59LeufsTer?
NM_000083.3:c.469del MANE Select	NP_000074.3:p.Leu157PhefsTer13
NR_046453.2:n.571del