Canonical Allele Identifier: CA7809882

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1185532
• ClinVar RCV Id: RCV001544432 ; RCV001544433 ; RCV001544434 ; RCV001698591
• dbSNP Id: rs12599176
• ExAC: 16:1497137 C / T
• gnomAD v2: 16-1497137-C-T
• gnomAD v3: 16-1447136-C-T
• gnomAD v4: 16-1447136-C-T
• MyVariant Identifiers: chr16:g.1497137C>T (hg19) ; chr16:g.1447136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447136C>T , CM000678.2:g.1447136C>T	GRCh38
NC_000016.9:g.1497137C>T , CM000678.1:g.1497137C>T	GRCh37
NC_000016.8:g.1437138C>T	NCBI36
NG_007567.1:g.32949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-50G>A	ENSP00000514703.1:n.2251-50G>A
ENST00000699948.1:c.*564-50G>A	ENSP00000514704.1:n.*564-50G>A
ENST00000382745.9:c.2251-50G>A MANE Select	ENSP00000372193.4:n.2251-50G>A
ENST00000262318.12:c.2183-53G>A	ENSP00000262318.8:n.2183-53G>A
ENST00000382745.8:c.2251-50G>A	ENSP00000372193.4:n.2251-50G>A
ENST00000448525.5:c.2179-50G>A	ENSP00000410907.1:n.2179-50G>A
ENST00000563642.6:n.2320-50G>A
ENST00000565092.6:n.1286-50G>A
ENST00000567836.2:n.492-50G>A
NM_001114331.2:c.2179-50G>A	NP_001107803.1:n.2179-50G>A
NM_001287.5:c.2251-50G>A	NP_001278.1:n.2251-50G>A
XM_011522354.1:c.2077-50G>A	XP_011520656.1:n.2077-50G>A
NM_001287.6:c.2251-50G>A MANE Select	NP_001278.1:n.2251-50G>A
NM_001114331.3:c.2179-50G>A	NP_001107803.1:n.2179-50G>A