Canonical Allele Identifier: CA2630996400

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1460966-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460966G>T , CM000678.2:g.1460966G>T	GRCh38
NC_000016.9:g.1510967G>T , CM000678.1:g.1510967G>T	GRCh37
NC_000016.8:g.1450968G>T	NCBI36
NG_007567.1:g.19119C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.352-18C>A	ENSP00000514703.1:n.352-18C>A
ENST00000699948.1:c.352-18C>A	ENSP00000514704.1:n.352-18C>A
ENST00000699950.1:n.304-18C>A
ENST00000382745.9:c.352-18C>A MANE Select	ENSP00000372193.4:n.352-18C>A
ENST00000262318.12:c.280-18C>A	ENSP00000262318.8:n.280-18C>A
ENST00000382745.8:c.352-18C>A	ENSP00000372193.4:n.352-18C>A
ENST00000448525.5:c.280-18C>A	ENSP00000410907.1:n.280-18C>A
ENST00000561665.5:n.382-18C>A
ENST00000564568.1:c.247-18C>A	ENSP00000454845.1:n.247-18C>A
ENST00000567139.1:n.403-18C>A
ENST00000569851.6:c.178-18C>A	ENSP00000461009.1:n.178-18C>A
NM_001114331.2:c.280-18C>A	NP_001107803.1:n.280-18C>A
NM_001287.5:c.352-18C>A	NP_001278.1:n.352-18C>A
XM_011522354.1:c.178-18C>A	XP_011520656.1:n.178-18C>A
NM_001287.6:c.352-18C>A MANE Select	NP_001278.1:n.352-18C>A
NM_001114331.3:c.280-18C>A	NP_001107803.1:n.280-18C>A