Canonical Allele Identifier: CA7809849

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1613343
• ClinVar RCV Id: RCV002158230
• dbSNP Id: rs199721463
• ExAC: 16:1497000 C / G
• gnomAD v2: 16-1497000-C-G
• gnomAD v3: 16-1446999-C-G
• gnomAD v4: 16-1446999-C-G
• MyVariant Identifiers: chr16:g.1497000C>G (hg19) ; chr16:g.1446999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1446999C>G , CM000678.2:g.1446999C>G	GRCh38
NC_000016.9:g.1497000C>G , CM000678.1:g.1497000C>G	GRCh37
NC_000016.8:g.1437001C>G	NCBI36
NG_007567.1:g.33086G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2331+7G>C	ENSP00000514703.1:n.2331+7G>C
ENST00000699948.1:c.*644+7G>C	ENSP00000514704.1:n.*644+7G>C
ENST00000382745.9:c.2331+7G>C MANE Select	ENSP00000372193.4:n.2331+7G>C
ENST00000262318.12:c.2260+7G>C	ENSP00000262318.8:n.2260+7G>C
ENST00000382745.8:c.2331+7G>C	ENSP00000372193.4:n.2331+7G>C
ENST00000448525.5:c.2259+7G>C	ENSP00000410907.1:n.2259+7G>C
ENST00000563642.6:n.2400+7G>C
ENST00000565092.6:n.1366+7G>C
ENST00000567836.2:n.572+7G>C
NM_001114331.2:c.2259+7G>C	NP_001107803.1:n.2259+7G>C
NM_001287.5:c.2331+7G>C	NP_001278.1:n.2331+7G>C
XM_011522354.1:c.2157+7G>C	XP_011520656.1:n.2157+7G>C
NM_001287.6:c.2331+7G>C MANE Select	NP_001278.1:n.2331+7G>C
NM_001114331.3:c.2259+7G>C	NP_001107803.1:n.2259+7G>C