Canonical Allele Identifier: CA369646480

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1013567
• ClinVar RCV Id: RCV001312154 ; RCV003770636 ; RCV003883175
• dbSNP Id: rs762754992
• gnomAD v4: 7-143341995-C-G
• MyVariant Identifiers: chr7:g.143039088C>G (hg19) ; chr7:g.143341995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341995C>G , CM000669.2:g.143341995C>G	GRCh38
NC_000007.13:g.143039088C>G , CM000669.1:g.143039088C>G	GRCh37
NC_000007.12:g.142749210C>G	NCBI36
NG_009815.1:g.30870C>G
NG_009815.2:g.30870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1649C>G	ENSP00000498052.2:p.Thr550Arg
ENST00000343257.7:c.1649C>G MANE Select	ENSP00000339867.2:p.Thr550Arg
ENST00000432192.6:c.1473C>G
ENST00000343257.6:c.1649C>G	ENSP00000339867.2:p.Thr550Arg
NM_000083.2:c.1649C>G	NP_000074.2:p.Thr550Arg
NR_046453.1:n.1589C>G
XM_011515781.1:c.1673C>G	XP_011514083.1:p.Thr558Arg
XM_011515782.1:c.395C>G	XP_011514084.1:p.Thr132Arg
XM_011515782.2:c.395C>G	XP_011514084.1:p.Thr132Arg
XM_017011739.1:c.1223C>G	XP_016867228.1:p.Thr408Arg
XM_017011740.1:c.1199C>G	XP_016867229.1:p.Thr400Arg
NM_000083.3:c.1649C>G MANE Select	NP_000074.3:p.Thr550Arg
NR_046453.2:n.1604C>G