Canonical Allele Identifier: CA2201647880
Gene: CLCN7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1449203C= , CM000678.2:g.1449203C= GRCh38
NC_000016.9:g.1499204C= , CM000678.1:g.1499204C= GRCh37
NC_000016.8:g.1439205C= NCBI36
NG_007567.1:g.30882G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.1669+73G= ENSP00000514703.1:n.1669+73G=
ENST00000699948.1:c.1624-110G= ENSP00000514704.1:n.1624-110G=
ENST00000382745.9:c.1669+73G= MANE Select ENSP00000372193.4:n.1669+73G=
ENST00000262318.12:c.1597+73G= ENSP00000262318.8:n.1597+73G=
ENST00000382745.8:c.1669+73G= ENSP00000372193.4:n.1669+73G=
ENST00000448525.5:c.1597+73G= ENSP00000410907.1:n.1597+73G=
ENST00000563642.6:n.1738+73G=
ENST00000565092.6:n.595G=
ENST00000567789.1:n.61G=
NM_001114331.2:c.1597+73G= NP_001107803.1:n.1597+73G=
NM_001287.5:c.1669+73G= NP_001278.1:n.1669+73G=
XM_011522354.1:c.1495+73G= XP_011520656.1:n.1495+73G=
NM_001287.6:c.1669+73G= MANE Select NP_001278.1:n.1669+73G=
NM_001114331.3:c.1597+73G= NP_001107803.1:n.1597+73G=