Canonical Allele Identifier: CA458542026

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2942575
• ClinVar RCV Id: RCV003807741
• MyVariant Identifiers: chr7:g.143018528A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321435A>G , CM000669.2:g.143321435A>G	GRCh38
NC_000007.13:g.143018528A>G , CM000669.1:g.143018528A>G	GRCh37
NC_000007.12:g.142728650A>G	NCBI36
NG_009815.1:g.10310A>G
NG_009815.2:g.10310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.504A>G	ENSP00000498052.2:p.Pro168=
ENST00000343257.7:c.504A>G MANE Select	ENSP00000339867.2:p.Pro168=
ENST00000432192.6:c.272A>G
ENST00000650516.1:c.504A>G	ENSP00000498052.1:p.Pro168=
ENST00000343257.6:c.504A>G	ENSP00000339867.2:p.Pro168=
NM_000083.2:c.504A>G	NP_000074.2:p.Pro168=
NR_046453.1:n.591A>G
XM_011515781.1:c.504A>G	XP_011514083.1:p.Pro168=
XM_017011739.1:c.211A>G	XP_016867228.1:p.Thr71Ala
XM_017011740.1:c.211A>G	XP_016867229.1:p.Thr71Ala
NM_000083.3:c.504A>G MANE Select	NP_000074.3:p.Pro168=
NR_046453.2:n.606A>G