Canonical Allele Identifier: CA276683234

Gene: CLCN7

Linked Data

• dbSNP Id: rs149035028
• gnomAD v2: 16-1511141-AGGT-A
• gnomAD v3: 16-1461140-AGGT-A
• gnomAD v4: 16-1461140-AGGT-A
• MyVariant Identifiers: chr16:g.1511142_1511144del (hg19) ; chr16:g.1461141_1461143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461143_1461145del , CM000678.2:g.1461143_1461145del	GRCh38
NC_000016.9:g.1511144_1511146del , CM000678.1:g.1511144_1511146del	GRCh37
NC_000016.8:g.1451145_1451147del	NCBI36
NG_007567.1:g.18942_18944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-195_352-193del	ENSP00000514703.1:n.352-195_352-193del
ENST00000699948.1:c.352-195_352-193del	ENSP00000514704.1:n.352-195_352-193del
ENST00000699950.1:n.304-195_304-193del
ENST00000382745.9:c.352-195_352-193del MANE Select	ENSP00000372193.4:n.352-195_352-193del
ENST00000262318.12:c.280-195_280-193del	ENSP00000262318.8:n.280-195_280-193del
ENST00000382745.8:c.352-195_352-193del	ENSP00000372193.4:n.352-195_352-193del
ENST00000448525.5:c.280-195_280-193del	ENSP00000410907.1:n.280-195_280-193del
ENST00000561665.5:n.382-195_382-193del
ENST00000564568.1:c.247-195_247-193del	ENSP00000454845.1:n.247-195_247-193del
ENST00000567139.1:n.403-195_403-193del
ENST00000569851.6:c.178-195_178-193del	ENSP00000461009.1:n.178-195_178-193del
NM_001114331.2:c.280-195_280-193del	NP_001107803.1:n.280-195_280-193del
NM_001287.5:c.352-195_352-193del	NP_001278.1:n.352-195_352-193del
XM_011522354.1:c.178-195_178-193del	XP_011520656.1:n.178-195_178-193del
NM_001287.6:c.352-195_352-193del MANE Select	NP_001278.1:n.352-195_352-193del
NM_001114331.3:c.280-195_280-193del	NP_001107803.1:n.280-195_280-193del