Canonical Allele Identifier: CA7810569

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1457264C>T , CM000678.2:g.1457264C>T	GRCh38
NC_000016.9:g.1507265C>T , CM000678.1:g.1507265C>T	GRCh37
NC_000016.8:g.1447266C>T	NCBI36
NG_007567.1:g.22821G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.812G>A MANE Select	NP_001278.1:p.Arg271Gln
ENST00000382745.9:c.812G>A MANE Select	ENSP00000372193.4:p.Arg271Gln
NM_001114331.2:c.740G>A	NP_001107803.1:p.Arg247Gln
NM_001114331.3:c.740G>A	NP_001107803.1:p.Arg247Gln
NM_001287.5:c.812G>A	NP_001278.1:p.Arg271Gln
ENST00000262318.12:c.740G>A	ENSP00000262318.8:p.Arg247Gln
ENST00000382745.8:c.812G>A	ENSP00000372193.4:p.Arg271Gln
ENST00000448525.5:c.740G>A	ENSP00000410907.1:p.Arg247Gln
ENST00000563822.1:n.443G>A
ENST00000569851.6:c.638G>A	ENSP00000461009.1:p.Arg213Gln
ENST00000699947.1:c.812G>A	ENSP00000514703.1:p.Arg271Gln
ENST00000699948.1:c.812G>A	ENSP00000514704.1:p.Arg271Gln
ENST00000699950.1:n.764G>A
XM_011522354.1:c.638G>A	XP_011520656.1:p.Arg213Gln