Canonical Allele Identifier: CA2579050549

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321570-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321570C>A , CM000669.2:g.143321570C>A	GRCh38
NC_000007.13:g.143018663C>A , CM000669.1:g.143018663C>A	GRCh37
NC_000007.12:g.142728785C>A	NCBI36
NG_009815.1:g.10445C>A
NG_009815.2:g.10445C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+77C>A	ENSP00000498052.2:n.562+77C>A
ENST00000343257.7:c.562+77C>A MANE Select	ENSP00000339867.2:n.562+77C>A
ENST00000432192.6:c.330+77C>A
ENST00000455478.6:c.16+77C>A	ENSP00000400027.2:n.16+77C>A
ENST00000650516.1:c.562+77C>A	ENSP00000498052.1:n.562+77C>A
ENST00000343257.6:c.562+77C>A	ENSP00000339867.2:n.562+77C>A
ENST00000432192.5:c.20+77C>A
ENST00000455478.5:c.20+77C>A
ENST00000495612.1:n.20+77C>A
NM_000083.2:c.562+77C>A	NP_000074.2:n.562+77C>A
NR_046453.1:n.649+77C>A
XM_011515781.1:c.562+77C>A	XP_011514083.1:n.562+77C>A
XM_017011739.1:c.269+77C>A	XP_016867228.1:n.269+77C>A
XM_017011740.1:c.269+77C>A	XP_016867229.1:n.269+77C>A
NM_000083.3:c.562+77C>A MANE Select	NP_000074.3:n.562+77C>A
NR_046453.2:n.664+77C>A