Canonical Allele Identifier: CA973713214

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038664031
• gnomAD v3: 16-1447300-G-GA
• gnomAD v4: 16-1447300-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447300_1447301insA , CM000678.2:g.1447300_1447301insA	GRCh38
NC_000016.9:g.1497301_1497302insA , CM000678.1:g.1497301_1497302insA	GRCh37
NC_000016.8:g.1437302_1437303insA	NCBI36
NG_007567.1:g.32784_32785insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+91_2250+92insT	ENSP00000514703.1:n.2250+91_2250+92insT
ENST00000699948.1:c.*563+91_*563+92insT	ENSP00000514704.1:n.*563+91_*563+92insT
ENST00000382745.9:c.2250+91_2250+92insT MANE Select	ENSP00000372193.4:n.2250+91_2250+92insT
ENST00000262318.12:c.2182+87_2182+88insT	ENSP00000262318.8:n.2182+87_2182+88insT
ENST00000382745.8:c.2250+91_2250+92insT	ENSP00000372193.4:n.2250+91_2250+92insT
ENST00000448525.5:c.2178+91_2178+92insT	ENSP00000410907.1:n.2178+91_2178+92insT
ENST00000563642.6:n.2319+91_2319+92insT
ENST00000565092.6:n.1285+91_1285+92insT
ENST00000567836.2:n.491+91_491+92insT
NM_001114331.2:c.2178+91_2178+92insT	NP_001107803.1:n.2178+91_2178+92insT
NM_001287.5:c.2250+91_2250+92insT	NP_001278.1:n.2250+91_2250+92insT
XM_011522354.1:c.2076+91_2076+92insT	XP_011520656.1:n.2076+91_2076+92insT
NM_001287.6:c.2250+91_2250+92insT MANE Select	NP_001278.1:n.2250+91_2250+92insT
NM_001114331.3:c.2178+91_2178+92insT	NP_001107803.1:n.2178+91_2178+92insT