Canonical Allele Identifier: CA369654126

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1407964
• ClinVar RCV Id: RCV001909395
• dbSNP Id: rs138115069
• MyVariant Identifiers: chr7:g.143048987C>G (hg19) ; chr7:g.143351894C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351894C>G , CM000669.2:g.143351894C>G	GRCh38
NC_000007.13:g.143048987C>G , CM000669.1:g.143048987C>G	GRCh37
NC_000007.12:g.142759109C>G	NCBI36
NG_009815.1:g.40769C>G
NG_009815.2:g.40769C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2896C>G	ENSP00000498052.2:p.Leu966Val
ENST00000343257.7:c.2896C>G MANE Select	ENSP00000339867.2:p.Leu966Val
ENST00000343257.6:c.2896C>G	ENSP00000339867.2:p.Leu966Val
NM_000083.2:c.2896C>G	NP_000074.2:p.Leu966Val
NR_046453.1:n.2836C>G
XM_011515781.1:c.2920C>G	XP_011514083.1:p.Leu974Val
XM_011515782.1:c.1642C>G	XP_011514084.1:p.Leu548Val
XM_011515782.2:c.1642C>G	XP_011514084.1:p.Leu548Val
XM_017011739.1:c.2470C>G	XP_016867228.1:p.Leu824Val
XM_017011740.1:c.2446C>G	XP_016867229.1:p.Leu816Val
NM_000083.3:c.2896C>G MANE Select	NP_000074.3:p.Leu966Val
NR_046453.2:n.2851C>G