Canonical Allele Identifier: CA2685378517

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143330701-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330701C>T , CM000669.2:g.143330701C>T	GRCh38
NC_000007.13:g.143027794C>T , CM000669.1:g.143027794C>T	GRCh37
NC_000007.12:g.142737916C>T	NCBI36
NG_009815.1:g.19576C>T
NG_009815.2:g.19576C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.854-71C>T	ENSP00000498052.2:n.854-71C>T
ENST00000343257.7:c.854-71C>T MANE Select	ENSP00000339867.2:n.854-71C>T
ENST00000432192.6:c.678-71C>T
ENST00000455478.6:c.442-71C>T	ENSP00000400027.2:n.442-71C>T
ENST00000650516.1:c.854-71C>T	ENSP00000498052.1:n.854-71C>T
ENST00000343257.6:c.854-71C>T	ENSP00000339867.2:n.854-71C>T
ENST00000432192.5:c.368-71C>T
ENST00000455478.5:c.446-71C>T
ENST00000495612.1:n.155-71C>T
NM_000083.2:c.854-71C>T	NP_000074.2:n.854-71C>T
NR_046453.1:n.944-71C>T
XM_011515781.1:c.854-71C>T	XP_011514083.1:n.854-71C>T
XM_017011739.1:c.404-71C>T	XP_016867228.1:n.404-71C>T
XM_017011740.1:c.404-71C>T	XP_016867229.1:n.404-71C>T
NM_000083.3:c.854-71C>T MANE Select	NP_000074.3:n.854-71C>T
NR_046453.2:n.959-71C>T