Canonical Allele Identifier: CA2630990119

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447196-A-AGCCCCCACGCCCGTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447200_1447216dup , CM000678.2:g.1447200_1447216dup	GRCh38
NC_000016.9:g.1497201_1497217dup , CM000678.1:g.1497201_1497217dup	GRCh37
NC_000016.8:g.1437202_1437218dup	NCBI36
NG_007567.1:g.32872_32888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-127_2251-111dup	ENSP00000514703.1:n.2251-127_2251-111dup
ENST00000699948.1:c.*564-127_*564-111dup	ENSP00000514704.1:n.*564-127_*564-111dup
ENST00000382745.9:c.2251-127_2251-111dup MANE Select	ENSP00000372193.4:n.2251-127_2251-111dup
ENST00000262318.12:c.2183-130_2183-114dup	ENSP00000262318.8:n.2183-130_2183-114dup
ENST00000382745.8:c.2251-127_2251-111dup	ENSP00000372193.4:n.2251-127_2251-111dup
ENST00000448525.5:c.2179-127_2179-111dup	ENSP00000410907.1:n.2179-127_2179-111dup
ENST00000563642.6:n.2320-127_2320-111dup
ENST00000565092.6:n.1286-127_1286-111dup
ENST00000567836.2:n.492-127_492-111dup
NM_001114331.2:c.2179-127_2179-111dup	NP_001107803.1:n.2179-127_2179-111dup
NM_001287.5:c.2251-127_2251-111dup	NP_001278.1:n.2251-127_2251-111dup
XM_011522354.1:c.2077-127_2077-111dup	XP_011520656.1:n.2077-127_2077-111dup
NM_001287.6:c.2251-127_2251-111dup MANE Select	NP_001278.1:n.2251-127_2251-111dup
NM_001114331.3:c.2179-127_2179-111dup	NP_001107803.1:n.2179-127_2179-111dup