Canonical Allele Identifier: CA718372679

Gene: CLCN7

Linked Data

• dbSNP Id: rs1201882487
• gnomAD v3: 16-1461270-C-CCACA
• gnomAD v4: 16-1461270-C-CCACA
• MyVariant Identifiers: chr16:g.1511271_1511272insCACA (hg19) ; chr16:g.1461270_1461271insCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461271_1461274dup , CM000678.2:g.1461271_1461274dup	GRCh38
NC_000016.9:g.1511272_1511275dup , CM000678.1:g.1511272_1511275dup	GRCh37
NC_000016.8:g.1451273_1451276dup	NCBI36
NG_007567.1:g.18811_18814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+131_351+134dup	ENSP00000514703.1:n.351+131_351+134dup
ENST00000699948.1:c.351+131_351+134dup	ENSP00000514704.1:n.351+131_351+134dup
ENST00000699950.1:n.303+131_303+134dup
ENST00000382745.9:c.351+131_351+134dup MANE Select	ENSP00000372193.4:n.351+131_351+134dup
ENST00000262318.12:c.279+131_279+134dup	ENSP00000262318.8:n.279+131_279+134dup
ENST00000382745.8:c.351+131_351+134dup	ENSP00000372193.4:n.351+131_351+134dup
ENST00000448525.5:c.279+131_279+134dup	ENSP00000410907.1:n.279+131_279+134dup
ENST00000561665.5:n.381+131_381+134dup
ENST00000564568.1:c.246+131_246+134dup	ENSP00000454845.1:n.246+131_246+134dup
ENST00000567139.1:n.402+131_402+134dup
ENST00000569851.6:c.177+131_177+134dup	ENSP00000461009.1:n.177+131_177+134dup
NM_001114331.2:c.279+131_279+134dup	NP_001107803.1:n.279+131_279+134dup
NM_001287.5:c.351+131_351+134dup	NP_001278.1:n.351+131_351+134dup
XM_011522354.1:c.177+131_177+134dup	XP_011520656.1:n.177+131_177+134dup
NM_001287.6:c.351+131_351+134dup MANE Select	NP_001278.1:n.351+131_351+134dup
NM_001114331.3:c.279+131_279+134dup	NP_001107803.1:n.279+131_279+134dup