Canonical Allele Identifier: CA2685378199

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143324515-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324515C>A , CM000669.2:g.143324515C>A	GRCh38
NC_000007.13:g.143021608C>A , CM000669.1:g.143021608C>A	GRCh37
NC_000007.12:g.142731730C>A	NCBI36
NG_009815.1:g.13390C>A
NG_009815.2:g.13390C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+618C>A	ENSP00000498052.2:n.853+618C>A
ENST00000343257.7:c.853+23C>A MANE Select	ENSP00000339867.2:n.853+23C>A
ENST00000432192.6:c.677+23C>A
ENST00000455478.6:c.441+23C>A	ENSP00000400027.2:n.441+23C>A
ENST00000650516.1:c.853+618C>A	ENSP00000498052.1:n.853+618C>A
ENST00000343257.6:c.853+23C>A	ENSP00000339867.2:n.853+23C>A
ENST00000432192.5:c.367+23C>A
ENST00000455478.5:c.445+23C>A
ENST00000495612.1:n.154+2667C>A
NM_000083.2:c.853+23C>A	NP_000074.2:n.853+23C>A
NR_046453.1:n.943+23C>A
XM_011515781.1:c.853+618C>A	XP_011514083.1:n.853+618C>A
XM_017011739.1:c.403+2667C>A	XP_016867228.1:n.403+2667C>A
XM_017011740.1:c.403+2667C>A	XP_016867229.1:n.403+2667C>A
NM_000083.3:c.853+23C>A MANE Select	NP_000074.3:n.853+23C>A
NR_046453.2:n.958+23C>A