Canonical Allele Identifier: CA394185772

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497544C>T (hg19) ; chr16:g.1447543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447543C>T , CM000678.2:g.1447543C>T	GRCh38
NC_000016.9:g.1497544C>T , CM000678.1:g.1497544C>T	GRCh37
NC_000016.8:g.1437545C>T	NCBI36
NG_007567.1:g.32542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2099G>A	ENSP00000514703.1:p.Gly700Asp
ENST00000699948.1:c.*412G>A	ENSP00000514704.1:n.*412G>A
ENST00000382745.9:c.2099G>A MANE Select	ENSP00000372193.4:p.Gly700Asp
ENST00000262318.12:c.2027G>A	ENSP00000262318.8:p.Gly676Asp
ENST00000382745.8:c.2099G>A	ENSP00000372193.4:p.Gly700Asp
ENST00000448525.5:c.2027G>A	ENSP00000410907.1:p.Gly676Asp
ENST00000563642.6:n.2168G>A
ENST00000565092.6:n.1134G>A
ENST00000567836.2:n.340G>A
NM_001114331.2:c.2027G>A	NP_001107803.1:p.Gly676Asp
NM_001287.5:c.2099G>A	NP_001278.1:p.Gly700Asp
XM_011522354.1:c.1925G>A	XP_011520656.1:p.Gly642Asp
NM_001287.6:c.2099G>A MANE Select	NP_001278.1:p.Gly700Asp
NM_001114331.3:c.2027G>A	NP_001107803.1:p.Gly676Asp