Canonical Allele Identifier: CA1108122013

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802436172
• gnomAD v3: 7-143321597-C-G
• gnomAD v4: 7-143321597-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321597C>G , CM000669.2:g.143321597C>G	GRCh38
NC_000007.13:g.143018690C>G , CM000669.1:g.143018690C>G	GRCh37
NC_000007.12:g.142728812C>G	NCBI36
NG_009815.1:g.10472C>G
NG_009815.2:g.10472C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+104C>G	ENSP00000498052.2:n.562+104C>G
ENST00000343257.7:c.562+104C>G MANE Select	ENSP00000339867.2:n.562+104C>G
ENST00000432192.6:c.330+104C>G
ENST00000455478.6:c.16+104C>G	ENSP00000400027.2:n.16+104C>G
ENST00000650516.1:c.562+104C>G	ENSP00000498052.1:n.562+104C>G
ENST00000343257.6:c.562+104C>G	ENSP00000339867.2:n.562+104C>G
ENST00000432192.5:c.20+104C>G
ENST00000455478.5:c.20+104C>G
ENST00000495612.1:n.20+104C>G
NM_000083.2:c.562+104C>G	NP_000074.2:n.562+104C>G
NR_046453.1:n.649+104C>G
XM_011515781.1:c.562+104C>G	XP_011514083.1:n.562+104C>G
XM_017011739.1:c.269+104C>G	XP_016867228.1:n.269+104C>G
XM_017011740.1:c.269+104C>G	XP_016867229.1:n.269+104C>G
NM_000083.3:c.562+104C>G MANE Select	NP_000074.3:n.562+104C>G
NR_046453.2:n.664+104C>G