Canonical Allele Identifier: CA2575868115

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1964849
• ClinVar RCV Id: RCV002726365
• gnomAD v4: 16-1447586-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447586C>G , CM000678.2:g.1447586C>G	GRCh38
NC_000016.9:g.1497587C>G , CM000678.1:g.1497587C>G	GRCh37
NC_000016.8:g.1437588C>G	NCBI36
NG_007567.1:g.32499G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2074-18G>C	ENSP00000514703.1:n.2074-18G>C
ENST00000699948.1:c.*387-18G>C	ENSP00000514704.1:n.*387-18G>C
ENST00000382745.9:c.2074-18G>C MANE Select	ENSP00000372193.4:n.2074-18G>C
ENST00000262318.12:c.2002-18G>C	ENSP00000262318.8:n.2002-18G>C
ENST00000382745.8:c.2074-18G>C	ENSP00000372193.4:n.2074-18G>C
ENST00000448525.5:c.2002-18G>C	ENSP00000410907.1:n.2002-18G>C
ENST00000563642.6:n.2143-18G>C
ENST00000565092.6:n.1109-18G>C
ENST00000567836.2:n.315-18G>C
NM_001114331.2:c.2002-18G>C	NP_001107803.1:n.2002-18G>C
NM_001287.5:c.2074-18G>C	NP_001278.1:n.2074-18G>C
XM_011522354.1:c.1900-18G>C	XP_011520656.1:n.1900-18G>C
NM_001287.6:c.2074-18G>C MANE Select	NP_001278.1:n.2074-18G>C
NM_001114331.3:c.2002-18G>C	NP_001107803.1:n.2002-18G>C