Canonical Allele Identifier: CA2630988792

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1449378-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449378C>A , CM000678.2:g.1449378C>A	GRCh38
NC_000016.9:g.1499379C>A , CM000678.1:g.1499379C>A	GRCh37
NC_000016.8:g.1439380C>A	NCBI36
NG_007567.1:g.30707G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1618-51G>T	ENSP00000514703.1:n.1618-51G>T
ENST00000699948.1:c.1624-285G>T	ENSP00000514704.1:n.1624-285G>T
ENST00000382745.9:c.1618-51G>T MANE Select	ENSP00000372193.4:n.1618-51G>T
ENST00000262318.12:c.1546-51G>T	ENSP00000262318.8:n.1546-51G>T
ENST00000382745.8:c.1618-51G>T	ENSP00000372193.4:n.1618-51G>T
ENST00000448525.5:c.1546-51G>T	ENSP00000410907.1:n.1546-51G>T
ENST00000563642.6:n.1636G>T
ENST00000565092.6:n.420G>T
NM_001114331.2:c.1546-51G>T	NP_001107803.1:n.1546-51G>T
NM_001287.5:c.1618-51G>T	NP_001278.1:n.1618-51G>T
XM_011522354.1:c.1444-51G>T	XP_011520656.1:n.1444-51G>T
NM_001287.6:c.1618-51G>T MANE Select	NP_001278.1:n.1618-51G>T
NM_001114331.3:c.1546-51G>T	NP_001107803.1:n.1546-51G>T