Canonical Allele Identifier: CA394185730

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497520A>C (hg19) ; chr16:g.1447519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447519A>C , CM000678.2:g.1447519A>C	GRCh38
NC_000016.9:g.1497520A>C , CM000678.1:g.1497520A>C	GRCh37
NC_000016.8:g.1437521A>C	NCBI36
NG_007567.1:g.32566T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2123T>G	ENSP00000514703.1:p.Leu708Arg
ENST00000699948.1:c.*436T>G	ENSP00000514704.1:n.*436T>G
ENST00000382745.9:c.2123T>G MANE Select	ENSP00000372193.4:p.Leu708Arg
ENST00000262318.12:c.2051T>G	ENSP00000262318.8:p.Leu684Arg
ENST00000382745.8:c.2123T>G	ENSP00000372193.4:p.Leu708Arg
ENST00000448525.5:c.2051T>G	ENSP00000410907.1:p.Leu684Arg
ENST00000563642.6:n.2192T>G
ENST00000565092.6:n.1158T>G
ENST00000567836.2:n.364T>G
NM_001114331.2:c.2051T>G	NP_001107803.1:p.Leu684Arg
NM_001287.5:c.2123T>G	NP_001278.1:p.Leu708Arg
XM_011522354.1:c.1949T>G	XP_011520656.1:p.Leu650Arg
NM_001287.6:c.2123T>G MANE Select	NP_001278.1:p.Leu708Arg
NM_001114331.3:c.2051T>G	NP_001107803.1:p.Leu684Arg