Canonical Allele Identifier: CA973713218

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038664838
• gnomAD v3: 16-1447330-T-C
• gnomAD v4: 16-1447330-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447330T>C , CM000678.2:g.1447330T>C	GRCh38
NC_000016.9:g.1497331T>C , CM000678.1:g.1497331T>C	GRCh37
NC_000016.8:g.1437332T>C	NCBI36
NG_007567.1:g.32755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+62A>G	ENSP00000514703.1:n.2250+62A>G
ENST00000699948.1:c.*563+62A>G	ENSP00000514704.1:n.*563+62A>G
ENST00000382745.9:c.2250+62A>G MANE Select	ENSP00000372193.4:n.2250+62A>G
ENST00000262318.12:c.2182+58A>G	ENSP00000262318.8:n.2182+58A>G
ENST00000382745.8:c.2250+62A>G	ENSP00000372193.4:n.2250+62A>G
ENST00000448525.5:c.2178+62A>G	ENSP00000410907.1:n.2178+62A>G
ENST00000563642.6:n.2319+62A>G
ENST00000565092.6:n.1285+62A>G
ENST00000567836.2:n.491+62A>G
NM_001114331.2:c.2178+62A>G	NP_001107803.1:n.2178+62A>G
NM_001287.5:c.2250+62A>G	NP_001278.1:n.2250+62A>G
XM_011522354.1:c.2076+62A>G	XP_011520656.1:n.2076+62A>G
NM_001287.6:c.2250+62A>G MANE Select	NP_001278.1:n.2250+62A>G
NM_001114331.3:c.2178+62A>G	NP_001107803.1:n.2178+62A>G