Canonical Allele Identifier: CA2201646719
Gene: CLCN7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447228C= , CM000678.2:g.1447228C= GRCh38
NC_000016.9:g.1497229C= , CM000678.1:g.1497229C= GRCh37
NC_000016.8:g.1437230C= NCBI36
NG_007567.1:g.32857G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.2251-142G= ENSP00000514703.1:n.2251-142G=
ENST00000699948.1:c.*564-142G= ENSP00000514704.1:n.*564-142G=
ENST00000382745.9:c.2251-142G= MANE Select ENSP00000372193.4:n.2251-142G=
ENST00000262318.12:c.2183-145G= ENSP00000262318.8:n.2183-145G=
ENST00000382745.8:c.2251-142G= ENSP00000372193.4:n.2251-142G=
ENST00000448525.5:c.2179-142G= ENSP00000410907.1:n.2179-142G=
ENST00000563642.6:n.2320-142G=
ENST00000565092.6:n.1286-142G=
ENST00000567836.2:n.492-142G=
NM_001114331.2:c.2179-142G= NP_001107803.1:n.2179-142G=
NM_001287.5:c.2251-142G= NP_001278.1:n.2251-142G=
XM_011522354.1:c.2077-142G= XP_011520656.1:n.2077-142G=
NM_001287.6:c.2251-142G= MANE Select NP_001278.1:n.2251-142G=
NM_001114331.3:c.2179-142G= NP_001107803.1:n.2179-142G=