Canonical Allele Identifier: CA394185421

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447085-T-C
• MyVariant Identifiers: chr16:g.1497086T>C (hg19) ; chr16:g.1447085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447085T>C , CM000678.2:g.1447085T>C	GRCh38
NC_000016.9:g.1497086T>C , CM000678.1:g.1497086T>C	GRCh37
NC_000016.8:g.1437087T>C	NCBI36
NG_007567.1:g.33000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2252A>G	ENSP00000514703.1:p.Glu751Gly
ENST00000699948.1:c.*565A>G	ENSP00000514704.1:n.*565A>G
ENST00000382745.9:c.2252A>G MANE Select	ENSP00000372193.4:p.Glu751Gly
ENST00000262318.12:c.2183-2A>G	ENSP00000262318.8:n.2183-2A>G
ENST00000382745.8:c.2252A>G	ENSP00000372193.4:p.Glu751Gly
ENST00000448525.5:c.2180A>G	ENSP00000410907.1:p.Glu727Gly
ENST00000563642.6:n.2321A>G
ENST00000565092.6:n.1287A>G
ENST00000567836.2:n.493A>G
NM_001114331.2:c.2180A>G	NP_001107803.1:p.Glu727Gly
NM_001287.5:c.2252A>G	NP_001278.1:p.Glu751Gly
XM_011522354.1:c.2078A>G	XP_011520656.1:p.Glu693Gly
NM_001287.6:c.2252A>G MANE Select	NP_001278.1:p.Glu751Gly
NM_001114331.3:c.2180A>G	NP_001107803.1:p.Glu727Gly