Canonical Allele Identifier: CA118540

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447052C>T , CM000678.2:g.1447052C>T	GRCh38
NC_000016.9:g.1497053C>T , CM000678.1:g.1497053C>T	GRCh37
NC_000016.8:g.1437054C>T	NCBI36
NG_007567.1:g.33033G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.2285G>A MANE Select	NP_001278.1:p.Arg762Gln
ENST00000382745.9:c.2285G>A MANE Select	ENSP00000372193.4:p.Arg762Gln
NM_001114331.2:c.2213G>A	NP_001107803.1:p.Arg738Gln
NM_001114331.3:c.2213G>A	NP_001107803.1:p.Arg738Gln
NM_001287.5:c.2285G>A	NP_001278.1:p.Arg762Gln
ENST00000262318.12:c.2214G>A	ENSP00000262318.8:p.Pro738=
ENST00000382745.8:c.2285G>A	ENSP00000372193.4:p.Arg762Gln
ENST00000448525.5:c.2213G>A	ENSP00000410907.1:p.Arg738Gln
ENST00000563642.6:n.2354G>A
ENST00000565092.6:n.1320G>A
ENST00000567836.2:n.526G>A
ENST00000699947.1:c.2285G>A	ENSP00000514703.1:p.Arg762Gln
ENST00000699948.1:c.*598G>A	ENSP00000514704.1:n.*598G>A
XM_011522354.1:c.2111G>A	XP_011520656.1:p.Arg704Gln