Canonical Allele Identifier: CA2579050642

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2933578
• ClinVar RCV Id: RCV003793136
• gnomAD v4: 7-143324407-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324407C>T , CM000669.2:g.143324407C>T	GRCh38
NC_000007.13:g.143021500C>T , CM000669.1:g.143021500C>T	GRCh37
NC_000007.12:g.142731622C>T	NCBI36
NG_009815.1:g.13282C>T
NG_009815.2:g.13282C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+510C>T	ENSP00000498052.2:n.853+510C>T
ENST00000343257.7:c.775-7C>T MANE Select	ENSP00000339867.2:n.775-7C>T
ENST00000432192.6:c.599-7C>T
ENST00000455478.6:c.363-7C>T	ENSP00000400027.2:n.363-7C>T
ENST00000650516.1:c.853+510C>T	ENSP00000498052.1:n.853+510C>T
ENST00000343257.6:c.775-7C>T	ENSP00000339867.2:n.775-7C>T
ENST00000432192.5:c.289-7C>T
ENST00000455478.5:c.367-7C>T
ENST00000495612.1:n.154+2559C>T
NM_000083.2:c.775-7C>T	NP_000074.2:n.775-7C>T
NR_046453.1:n.862-4C>T
XM_011515781.1:c.853+510C>T	XP_011514083.1:n.853+510C>T
XM_017011739.1:c.403+2559C>T	XP_016867228.1:n.403+2559C>T
XM_017011740.1:c.403+2559C>T	XP_016867229.1:n.403+2559C>T
NM_000083.3:c.775-7C>T MANE Select	NP_000074.3:n.775-7C>T
NR_046453.2:n.877-4C>T