Canonical Allele Identifier: CA2201679598
Gene: CLCN7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1461313C= , CM000678.2:g.1461313C= GRCh38
NC_000016.9:g.1511314C= , CM000678.1:g.1511314C= GRCh37
NC_000016.8:g.1451315C= NCBI36
NG_007567.1:g.18772G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.351+92G= ENSP00000514703.1:n.351+92G=
ENST00000699948.1:c.351+92G= ENSP00000514704.1:n.351+92G=
ENST00000699950.1:n.303+92G=
ENST00000382745.9:c.351+92G= MANE Select ENSP00000372193.4:n.351+92G=
ENST00000262318.12:c.279+92G= ENSP00000262318.8:n.279+92G=
ENST00000382745.8:c.351+92G= ENSP00000372193.4:n.351+92G=
ENST00000448525.5:c.279+92G= ENSP00000410907.1:n.279+92G=
ENST00000561665.5:n.381+92G=
ENST00000564568.1:c.246+92G= ENSP00000454845.1:n.246+92G=
ENST00000567139.1:n.402+92G=
ENST00000569851.6:c.177+92G= ENSP00000461009.1:n.177+92G=
NM_001114331.2:c.279+92G= NP_001107803.1:n.279+92G=
NM_001287.5:c.351+92G= NP_001278.1:n.351+92G=
XM_011522354.1:c.177+92G= XP_011520656.1:n.177+92G=
NM_001287.6:c.351+92G= MANE Select NP_001278.1:n.351+92G=
NM_001114331.3:c.279+92G= NP_001107803.1:n.279+92G=