Canonical Allele Identifier: CA168256589

Gene: CLCN1

Linked Data

• dbSNP Id: rs553350860
• gnomAD v3: 7-143322046-A-G
• gnomAD v4: 7-143322046-A-G
• MyVariant Identifiers: chr7:g.143019139A>G (hg19) ; chr7:g.143322046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322046A>G , CM000669.2:g.143322046A>G	GRCh38
NC_000007.13:g.143019139A>G , CM000669.1:g.143019139A>G	GRCh37
NC_000007.12:g.142729261A>G	NCBI36
NG_009815.1:g.10921A>G
NG_009815.2:g.10921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+198A>G	ENSP00000498052.2:n.696+198A>G
ENST00000343257.7:c.696+198A>G MANE Select	ENSP00000339867.2:n.696+198A>G
ENST00000432192.6:c.464+198A>G
ENST00000455478.6:c.150+198A>G	ENSP00000400027.2:n.150+198A>G
ENST00000650516.1:c.696+198A>G	ENSP00000498052.1:n.696+198A>G
ENST00000343257.6:c.696+198A>G	ENSP00000339867.2:n.696+198A>G
ENST00000432192.5:c.154+198A>G
ENST00000455478.5:c.154+198A>G
ENST00000495612.1:n.154+198A>G
NM_000083.2:c.696+198A>G	NP_000074.2:n.696+198A>G
NR_046453.1:n.783+198A>G
XM_011515781.1:c.696+198A>G	XP_011514083.1:n.696+198A>G
XM_017011739.1:c.403+198A>G	XP_016867228.1:n.403+198A>G
XM_017011740.1:c.403+198A>G	XP_016867229.1:n.403+198A>G
NM_000083.3:c.696+198A>G MANE Select	NP_000074.3:n.696+198A>G
NR_046453.2:n.798+198A>G