Canonical Allele Identifier: CA2630996528

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1461263-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461263A>C , CM000678.2:g.1461263A>C	GRCh38
NC_000016.9:g.1511264A>C , CM000678.1:g.1511264A>C	GRCh37
NC_000016.8:g.1451265A>C	NCBI36
NG_007567.1:g.18822T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+142T>G	ENSP00000514703.1:n.351+142T>G
ENST00000699948.1:c.351+142T>G	ENSP00000514704.1:n.351+142T>G
ENST00000699950.1:n.303+142T>G
ENST00000382745.9:c.351+142T>G MANE Select	ENSP00000372193.4:n.351+142T>G
ENST00000262318.12:c.279+142T>G	ENSP00000262318.8:n.279+142T>G
ENST00000382745.8:c.351+142T>G	ENSP00000372193.4:n.351+142T>G
ENST00000448525.5:c.279+142T>G	ENSP00000410907.1:n.279+142T>G
ENST00000561665.5:n.381+142T>G
ENST00000564568.1:c.246+142T>G	ENSP00000454845.1:n.246+142T>G
ENST00000567139.1:n.402+142T>G
ENST00000569851.6:c.177+142T>G	ENSP00000461009.1:n.177+142T>G
NM_001114331.2:c.279+142T>G	NP_001107803.1:n.279+142T>G
NM_001287.5:c.351+142T>G	NP_001278.1:n.351+142T>G
XM_011522354.1:c.177+142T>G	XP_011520656.1:n.177+142T>G
NM_001287.6:c.351+142T>G MANE Select	NP_001278.1:n.351+142T>G
NM_001114331.3:c.279+142T>G	NP_001107803.1:n.279+142T>G