Canonical Allele Identifier: CA2201646893

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038668989
• gnomAD v4: 16-1447507-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447509del , CM000678.2:g.1447509del	GRCh38
NC_000016.9:g.1497510del , CM000678.1:g.1497510del	GRCh37
NC_000016.8:g.1437511del	NCBI36
NG_007567.1:g.32577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2134del	ENSP00000514703.1:p.Arg712GlufsTer30
ENST00000699948.1:c.*447del	ENSP00000514704.1:n.*447del
ENST00000382745.9:c.2134del MANE Select	ENSP00000372193.4:p.Arg712GlufsTer30
ENST00000262318.12:c.2062del	ENSP00000262318.8:p.Arg688GlufsTer30
ENST00000382745.8:c.2134del	ENSP00000372193.4:p.Arg712GlufsTer30
ENST00000448525.5:c.2062del	ENSP00000410907.1:p.Arg688GlufsTer30
ENST00000563642.6:n.2203del
ENST00000565092.6:n.1169del
ENST00000567836.2:n.375del
NM_001114331.2:c.2062del	NP_001107803.1:p.Arg688GlufsTer30
NM_001287.5:c.2134del	NP_001278.1:p.Arg712GlufsTer30
XM_011522354.1:c.1960del	XP_011520656.1:p.Arg654GlufsTer30
NM_001287.6:c.2134del MANE Select	NP_001278.1:p.Arg712GlufsTer30
NM_001114331.3:c.2062del	NP_001107803.1:p.Arg688GlufsTer30