Canonical Allele Identifier: CA17978246
Gene: CLCN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11806987T>G , CM000663.2:g.11806987T>G GRCh38
NC_000001.10:g.11867044T>G , CM000663.1:g.11867044T>G GRCh37
NC_000001.9:g.11789631T>G NCBI36
NG_008766.1:g.5838T>G
NG_013351.1:g.4117A>C , LRG_726:g.4117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346436.11:c.88-144T>G MANE Select ENSP00000234488.9:n.88-144T>G
ENST00000400892.3:c.88-144T>G ENSP00000496938.1:n.88-144T>G
ENST00000312413.10:c.88-144T>G ENSP00000308367.7:n.88-144T>G
ENST00000346436.10:c.88-144T>G ENSP00000234488.9:n.88-144T>G
ENST00000376490.7:n.88-144T>G
ENST00000376491.7:n.88-144T>G
ENST00000376492.3:n.88-144T>G
ENST00000376496.4:c.88-144T>G ENSP00000365679.3:n.88-144T>G
ENST00000376497.7:c.88-144T>G ENSP00000365680.3:n.88-144T>G
NM_001256959.1:c.88-144T>G NP_001243888.1:n.88-144T>G
NM_001286.3:c.88-144T>G NP_001277.1:n.88-144T>G
NR_046428.1:n.255-144T>G
NM_001286.4:c.88-144T>G NP_001277.1:n.88-144T>G
NM_001256959.2:c.88-144T>G NP_001243888.2:n.88-144T>G
NM_001286.5:c.88-144T>G MANE Select NP_001277.2:n.88-144T>G
NR_046428.2:n.160-144T>G