Canonical Allele Identifier: CA369687550

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 662053
• ClinVar RCV Id: RCV000819609
• dbSNP Id: rs1563075892
• gnomAD v4: 7-143324454-C-G
• MyVariant Identifiers: chr7:g.143021547C>G (hg19) ; chr7:g.143324454C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324454C>G , CM000669.2:g.143324454C>G	GRCh38
NC_000007.13:g.143021547C>G , CM000669.1:g.143021547C>G	GRCh37
NC_000007.12:g.142731669C>G	NCBI36
NG_009815.1:g.13329C>G
NG_009815.2:g.13329C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+557C>G	ENSP00000498052.2:n.853+557C>G
ENST00000343257.7:c.815C>G MANE Select	ENSP00000339867.2:p.Ala272Gly
ENST00000432192.6:c.639C>G
ENST00000455478.6:c.403C>G	ENSP00000400027.2:n.403C>G
ENST00000650516.1:c.853+557C>G	ENSP00000498052.1:n.853+557C>G
ENST00000343257.6:c.815C>G	ENSP00000339867.2:p.Ala272Gly
ENST00000432192.5:c.329C>G
ENST00000455478.5:c.407C>G
ENST00000495612.1:n.154+2606C>G
NM_000083.2:c.815C>G	NP_000074.2:p.Ala272Gly
NR_046453.1:n.905C>G
XM_011515781.1:c.853+557C>G	XP_011514083.1:n.853+557C>G
XM_017011739.1:c.403+2606C>G	XP_016867228.1:n.403+2606C>G
XM_017011740.1:c.403+2606C>G	XP_016867229.1:n.403+2606C>G
NM_000083.3:c.815C>G MANE Select	NP_000074.3:p.Ala272Gly
NR_046453.2:n.920C>G