Canonical Allele Identifier: CA2739269849

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2795425
• ClinVar RCV Id: RCV003675430

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447098_1447119dup , CM000678.2:g.1447098_1447119dup	GRCh38
NC_000016.9:g.1497099_1497120dup , CM000678.1:g.1497099_1497120dup	GRCh37
NC_000016.8:g.1437100_1437121dup	NCBI36
NG_007567.1:g.32966_32987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-33_2251-12dup	ENSP00000514703.1:n.2251-33_2251-12dup
ENST00000699948.1:c.*564-33_*564-12dup	ENSP00000514704.1:n.*564-33_*564-12dup
ENST00000382745.9:c.2251-33_2251-12dup MANE Select	ENSP00000372193.4:n.2251-33_2251-12dup
ENST00000262318.12:c.2183-36_2183-15dup	ENSP00000262318.8:n.2183-36_2183-15dup
ENST00000382745.8:c.2251-33_2251-12dup	ENSP00000372193.4:n.2251-33_2251-12dup
ENST00000448525.5:c.2179-33_2179-12dup	ENSP00000410907.1:n.2179-33_2179-12dup
ENST00000563642.6:n.2320-33_2320-12dup
ENST00000565092.6:n.1286-33_1286-12dup
ENST00000567836.2:n.492-33_492-12dup
NM_001114331.2:c.2179-33_2179-12dup	NP_001107803.1:n.2179-33_2179-12dup
NM_001287.5:c.2251-33_2251-12dup	NP_001278.1:n.2251-33_2251-12dup
XM_011522354.1:c.2077-33_2077-12dup	XP_011520656.1:n.2077-33_2077-12dup
NM_001287.6:c.2251-33_2251-12dup MANE Select	NP_001278.1:n.2251-33_2251-12dup
NM_001114331.3:c.2179-33_2179-12dup	NP_001107803.1:n.2179-33_2179-12dup