Canonical Allele Identifier: CA2630996123

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1460808-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460808A>G , CM000678.2:g.1460808A>G	GRCh38
NC_000016.9:g.1510809A>G , CM000678.1:g.1510809A>G	GRCh37
NC_000016.8:g.1450810A>G	NCBI36
NG_007567.1:g.19277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.484+8T>C	ENSP00000514703.1:n.484+8T>C
ENST00000699948.1:c.484+8T>C	ENSP00000514704.1:n.484+8T>C
ENST00000699950.1:n.436+8T>C
ENST00000382745.9:c.484+8T>C MANE Select	ENSP00000372193.4:n.484+8T>C
ENST00000262318.12:c.412+8T>C	ENSP00000262318.8:n.412+8T>C
ENST00000382745.8:c.484+8T>C	ENSP00000372193.4:n.484+8T>C
ENST00000448525.5:c.412+8T>C	ENSP00000410907.1:n.412+8T>C
ENST00000561665.5:n.522T>C
ENST00000567139.1:n.543T>C
ENST00000569851.6:c.310+8T>C	ENSP00000461009.1:n.310+8T>C
NM_001114331.2:c.412+8T>C	NP_001107803.1:n.412+8T>C
NM_001287.5:c.484+8T>C	NP_001278.1:n.484+8T>C
XM_011522354.1:c.310+8T>C	XP_011520656.1:n.310+8T>C
NM_001287.6:c.484+8T>C MANE Select	NP_001278.1:n.484+8T>C
NM_001114331.3:c.412+8T>C	NP_001107803.1:n.412+8T>C