Canonical Allele Identifier: CA394185417

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2745665
• ClinVar RCV Id: RCV003568152
• MyVariant Identifiers: chr16:g.1497084C>T (hg19) ; chr16:g.1447083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447083C>T , CM000678.2:g.1447083C>T	GRCh38
NC_000016.9:g.1497084C>T , CM000678.1:g.1497084C>T	GRCh37
NC_000016.8:g.1437085C>T	NCBI36
NG_007567.1:g.33002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2254G>A	ENSP00000514703.1:p.Ala752Thr
ENST00000699948.1:c.*567G>A	ENSP00000514704.1:n.*567G>A
ENST00000382745.9:c.2254G>A MANE Select	ENSP00000372193.4:p.Ala752Thr
ENST00000262318.12:c.2183G>A	ENSP00000262318.8:p.Cys728Tyr
ENST00000382745.8:c.2254G>A	ENSP00000372193.4:p.Ala752Thr
ENST00000448525.5:c.2182G>A	ENSP00000410907.1:p.Ala728Thr
ENST00000563642.6:n.2323G>A
ENST00000565092.6:n.1289G>A
ENST00000567836.2:n.495G>A
NM_001114331.2:c.2182G>A	NP_001107803.1:p.Ala728Thr
NM_001287.5:c.2254G>A	NP_001278.1:p.Ala752Thr
XM_011522354.1:c.2080G>A	XP_011520656.1:p.Ala694Thr
NM_001287.6:c.2254G>A MANE Select	NP_001278.1:p.Ala752Thr
NM_001114331.3:c.2182G>A	NP_001107803.1:p.Ala728Thr