Canonical Allele Identifier: CA369683661

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1324085
• ClinVar RCV Id: RCV001780790
• dbSNP Id: rs1586485438
• gnomAD v4: 7-143321425-T-G
• MyVariant Identifiers: chr7:g.143018518T>G (hg19) ; chr7:g.143321425T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321425T>G , CM000669.2:g.143321425T>G	GRCh38
NC_000007.13:g.143018518T>G , CM000669.1:g.143018518T>G	GRCh37
NC_000007.12:g.142728640T>G	NCBI36
NG_009815.1:g.10300T>G
NG_009815.2:g.10300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.494T>G	ENSP00000498052.2:p.Val165Gly
ENST00000343257.7:c.494T>G MANE Select	ENSP00000339867.2:p.Val165Gly
ENST00000432192.6:c.262T>G
ENST00000650516.1:c.494T>G	ENSP00000498052.1:p.Val165Gly
ENST00000343257.6:c.494T>G	ENSP00000339867.2:p.Val165Gly
NM_000083.2:c.494T>G	NP_000074.2:p.Val165Gly
NR_046453.1:n.581T>G
XM_011515781.1:c.494T>G	XP_011514083.1:p.Val165Gly
XM_017011739.1:c.201T>G	XP_016867228.1:p.Gly67=
XM_017011740.1:c.201T>G	XP_016867229.1:p.Gly67=
NM_000083.3:c.494T>G MANE Select	NP_000074.3:p.Val165Gly
NR_046453.2:n.596T>G