Canonical Allele Identifier: CA2630996555

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1461278-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461278C>A , CM000678.2:g.1461278C>A	GRCh38
NC_000016.9:g.1511279C>A , CM000678.1:g.1511279C>A	GRCh37
NC_000016.8:g.1451280C>A	NCBI36
NG_007567.1:g.18807G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+127G>T	ENSP00000514703.1:n.351+127G>T
ENST00000699948.1:c.351+127G>T	ENSP00000514704.1:n.351+127G>T
ENST00000699950.1:n.303+127G>T
ENST00000382745.9:c.351+127G>T MANE Select	ENSP00000372193.4:n.351+127G>T
ENST00000262318.12:c.279+127G>T	ENSP00000262318.8:n.279+127G>T
ENST00000382745.8:c.351+127G>T	ENSP00000372193.4:n.351+127G>T
ENST00000448525.5:c.279+127G>T	ENSP00000410907.1:n.279+127G>T
ENST00000561665.5:n.381+127G>T
ENST00000564568.1:c.246+127G>T	ENSP00000454845.1:n.246+127G>T
ENST00000567139.1:n.402+127G>T
ENST00000569851.6:c.177+127G>T	ENSP00000461009.1:n.177+127G>T
NM_001114331.2:c.279+127G>T	NP_001107803.1:n.279+127G>T
NM_001287.5:c.351+127G>T	NP_001278.1:n.351+127G>T
XM_011522354.1:c.177+127G>T	XP_011520656.1:n.177+127G>T
NM_001287.6:c.351+127G>T MANE Select	NP_001278.1:n.351+127G>T
NM_001114331.3:c.279+127G>T	NP_001107803.1:n.279+127G>T