Canonical Allele Identifier: CA369641484

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1432751
• ClinVar RCV Id: RCV001982088
• dbSNP Id: rs1802699135
• gnomAD v3: 7-143330770-A-G
• gnomAD v4: 7-143330770-A-G
• MyVariant Identifiers: chr7:g.143027863A>G (hg19) ; chr7:g.143330770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330770A>G , CM000669.2:g.143330770A>G	GRCh38
NC_000007.13:g.143027863A>G , CM000669.1:g.143027863A>G	GRCh37
NC_000007.12:g.142737985A>G	NCBI36
NG_009815.1:g.19645A>G
NG_009815.2:g.19645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.854-2A>G	ENSP00000498052.2:n.854-2A>G
ENST00000343257.7:c.854-2A>G MANE Select	ENSP00000339867.2:n.854-2A>G
ENST00000432192.6:c.678-2A>G
ENST00000455478.6:c.442-2A>G	ENSP00000400027.2:n.442-2A>G
ENST00000650516.1:c.854-2A>G	ENSP00000498052.1:n.854-2A>G
ENST00000343257.6:c.854-2A>G	ENSP00000339867.2:n.854-2A>G
ENST00000432192.5:c.368-2A>G
ENST00000455478.5:c.446-2A>G
ENST00000495612.1:n.155-2A>G
NM_000083.2:c.854-2A>G	NP_000074.2:n.854-2A>G
NR_046453.1:n.944-2A>G
XM_011515781.1:c.854-2A>G	XP_011514083.1:n.854-2A>G
XM_017011739.1:c.404-2A>G	XP_016867228.1:n.404-2A>G
XM_017011740.1:c.404-2A>G	XP_016867229.1:n.404-2A>G
NM_000083.3:c.854-2A>G MANE Select	NP_000074.3:n.854-2A>G
NR_046453.2:n.959-2A>G