Canonical Allele Identifier: CA7810808

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1649760
• ClinVar RCV Id: RCV002146566
• dbSNP Id: rs199866480
• ExAC: 16:1510969 C / T
• gnomAD v2: 16-1510969-C-T
• gnomAD v3: 16-1460968-C-T
• gnomAD v4: 16-1460968-C-T
• MyVariant Identifiers: chr16:g.1510969C>T (hg19) ; chr16:g.1460968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460968C>T , CM000678.2:g.1460968C>T	GRCh38
NC_000016.9:g.1510969C>T , CM000678.1:g.1510969C>T	GRCh37
NC_000016.8:g.1450970C>T	NCBI36
NG_007567.1:g.19117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.352-20G>A	ENSP00000514703.1:n.352-20G>A
ENST00000699948.1:c.352-20G>A	ENSP00000514704.1:n.352-20G>A
ENST00000699950.1:n.304-20G>A
ENST00000382745.9:c.352-20G>A MANE Select	ENSP00000372193.4:n.352-20G>A
ENST00000262318.12:c.280-20G>A	ENSP00000262318.8:n.280-20G>A
ENST00000382745.8:c.352-20G>A	ENSP00000372193.4:n.352-20G>A
ENST00000448525.5:c.280-20G>A	ENSP00000410907.1:n.280-20G>A
ENST00000561665.5:n.382-20G>A
ENST00000564568.1:c.247-20G>A	ENSP00000454845.1:n.247-20G>A
ENST00000567139.1:n.403-20G>A
ENST00000569851.6:c.178-20G>A	ENSP00000461009.1:n.178-20G>A
NM_001114331.2:c.280-20G>A	NP_001107803.1:n.280-20G>A
NM_001287.5:c.352-20G>A	NP_001278.1:n.352-20G>A
XM_011522354.1:c.178-20G>A	XP_011520656.1:n.178-20G>A
NM_001287.6:c.352-20G>A MANE Select	NP_001278.1:n.352-20G>A
NM_001114331.3:c.280-20G>A	NP_001107803.1:n.280-20G>A