Canonical Allele Identifier: CA276668111

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2100512
• ClinVar RCV Id: RCV003014440
• dbSNP Id: rs1025317406
• MyVariant Identifiers: chr16:g.1497576G>C (hg19) ; chr16:g.1447575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447575G>C , CM000678.2:g.1447575G>C	GRCh38
NC_000016.9:g.1497576G>C , CM000678.1:g.1497576G>C	GRCh37
NC_000016.8:g.1437577G>C	NCBI36
NG_007567.1:g.32510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2074-7C>G	ENSP00000514703.1:n.2074-7C>G
ENST00000699948.1:c.*387-7C>G	ENSP00000514704.1:n.*387-7C>G
ENST00000382745.9:c.2074-7C>G MANE Select	ENSP00000372193.4:n.2074-7C>G
ENST00000262318.12:c.2002-7C>G	ENSP00000262318.8:n.2002-7C>G
ENST00000382745.8:c.2074-7C>G	ENSP00000372193.4:n.2074-7C>G
ENST00000448525.5:c.2002-7C>G	ENSP00000410907.1:n.2002-7C>G
ENST00000563642.6:n.2143-7C>G
ENST00000565092.6:n.1109-7C>G
ENST00000567836.2:n.315-7C>G
NM_001114331.2:c.2002-7C>G	NP_001107803.1:n.2002-7C>G
NM_001287.5:c.2074-7C>G	NP_001278.1:n.2074-7C>G
XM_011522354.1:c.1900-7C>G	XP_011520656.1:n.1900-7C>G
NM_001287.6:c.2074-7C>G MANE Select	NP_001278.1:n.2074-7C>G
NM_001114331.3:c.2002-7C>G	NP_001107803.1:n.2002-7C>G