Canonical Allele Identifier: CA394185418

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497085C>A (hg19) ; chr16:g.1447084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447084C>A , CM000678.2:g.1447084C>A	GRCh38
NC_000016.9:g.1497085C>A , CM000678.1:g.1497085C>A	GRCh37
NC_000016.8:g.1437086C>A	NCBI36
NG_007567.1:g.33001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2253G>T	ENSP00000514703.1:p.Glu751Asp
ENST00000699948.1:c.*566G>T	ENSP00000514704.1:n.*566G>T
ENST00000382745.9:c.2253G>T MANE Select	ENSP00000372193.4:p.Glu751Asp
ENST00000262318.12:c.2183-1G>T	ENSP00000262318.8:n.2183-1G>T
ENST00000382745.8:c.2253G>T	ENSP00000372193.4:p.Glu751Asp
ENST00000448525.5:c.2181G>T	ENSP00000410907.1:p.Glu727Asp
ENST00000563642.6:n.2322G>T
ENST00000565092.6:n.1288G>T
ENST00000567836.2:n.494G>T
NM_001114331.2:c.2181G>T	NP_001107803.1:p.Glu727Asp
NM_001287.5:c.2253G>T	NP_001278.1:p.Glu751Asp
XM_011522354.1:c.2079G>T	XP_011520656.1:p.Glu693Asp
NM_001287.6:c.2253G>T MANE Select	NP_001278.1:p.Glu751Asp
NM_001114331.3:c.2181G>T	NP_001107803.1:p.Glu727Asp