Canonical Allele Identifier: CA394185314

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447063G>C , CM000678.2:g.1447063G>C	GRCh38
NC_000016.9:g.1497064G>C , CM000678.1:g.1497064G>C	GRCh37
NC_000016.8:g.1437065G>C	NCBI36
NG_007567.1:g.33022C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.2274C>G MANE Select	NP_001278.1:p.Phe758Leu
ENST00000382745.9:c.2274C>G MANE Select	ENSP00000372193.4:p.Phe758Leu
NM_001114331.2:c.2202C>G	NP_001107803.1:p.Phe734Leu
NM_001114331.3:c.2202C>G	NP_001107803.1:p.Phe734Leu
NM_001287.5:c.2274C>G	NP_001278.1:p.Phe758Leu
ENST00000262318.12:c.2203C>G	ENSP00000262318.8:p.Gln735Glu
ENST00000382745.8:c.2274C>G	ENSP00000372193.4:p.Phe758Leu
ENST00000448525.5:c.2202C>G	ENSP00000410907.1:p.Phe734Leu
ENST00000563642.6:n.2343C>G
ENST00000565092.6:n.1309C>G
ENST00000567836.2:n.515C>G
ENST00000699947.1:c.2274C>G	ENSP00000514703.1:p.Phe758Leu
ENST00000699948.1:c.*587C>G	ENSP00000514704.1:n.*587C>G
XM_011522354.1:c.2100C>G	XP_011520656.1:p.Phe700Leu