Canonical Allele Identifier: CA718372555

Gene: CLCN7

Linked Data

• dbSNP Id: rs1309512792
• gnomAD v3: 16-1461087-ACAGTTT-A
• gnomAD v4: 16-1461087-ACAGTTT-A
• MyVariant Identifiers: chr16:g.1511089_1511094del (hg19) ; chr16:g.1461088_1461093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461089_1461094del , CM000678.2:g.1461089_1461094del	GRCh38
NC_000016.9:g.1511090_1511095del , CM000678.1:g.1511090_1511095del	GRCh37
NC_000016.8:g.1451091_1451096del	NCBI36
NG_007567.1:g.18992_18997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-145_352-140del	ENSP00000514703.1:n.352-145_352-140del
ENST00000699948.1:c.352-145_352-140del	ENSP00000514704.1:n.352-145_352-140del
ENST00000699950.1:n.304-145_304-140del
ENST00000382745.9:c.352-145_352-140del MANE Select	ENSP00000372193.4:n.352-145_352-140del
ENST00000262318.12:c.280-145_280-140del	ENSP00000262318.8:n.280-145_280-140del
ENST00000382745.8:c.352-145_352-140del	ENSP00000372193.4:n.352-145_352-140del
ENST00000448525.5:c.280-145_280-140del	ENSP00000410907.1:n.280-145_280-140del
ENST00000561665.5:n.382-145_382-140del
ENST00000564568.1:c.247-145_247-140del	ENSP00000454845.1:n.247-145_247-140del
ENST00000567139.1:n.403-145_403-140del
ENST00000569851.6:c.178-145_178-140del	ENSP00000461009.1:n.178-145_178-140del
NM_001114331.2:c.280-145_280-140del	NP_001107803.1:n.280-145_280-140del
NM_001287.5:c.352-145_352-140del	NP_001278.1:n.352-145_352-140del
XM_011522354.1:c.178-145_178-140del	XP_011520656.1:n.178-145_178-140del
NM_001287.6:c.352-145_352-140del MANE Select	NP_001278.1:n.352-145_352-140del
NM_001114331.3:c.280-145_280-140del	NP_001107803.1:n.280-145_280-140del