Canonical Allele Identifier: CA394185708
Gene: CLCN7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447510A>T , CM000678.2:g.1447510A>T GRCh38
NC_000016.9:g.1497511A>T , CM000678.1:g.1497511A>T GRCh37
NC_000016.8:g.1437512A>T NCBI36
NG_007567.1:g.32575T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699947.1:c.2132T>A ENSP00000514703.1:p.Phe711Tyr
ENST00000699948.1:c.*445T>A ENSP00000514704.1:n.*445T>A
ENST00000382745.9:c.2132T>A MANE Select ENSP00000372193.4:p.Phe711Tyr
ENST00000262318.12:c.2060T>A ENSP00000262318.8:p.Phe687Tyr
ENST00000382745.8:c.2132T>A ENSP00000372193.4:p.Phe711Tyr
ENST00000448525.5:c.2060T>A ENSP00000410907.1:p.Phe687Tyr
ENST00000563642.6:n.2201T>A
ENST00000565092.6:n.1167T>A
ENST00000567836.2:n.373T>A
NM_001114331.2:c.2060T>A NP_001107803.1:p.Phe687Tyr
NM_001287.5:c.2132T>A NP_001278.1:p.Phe711Tyr
XM_011522354.1:c.1958T>A XP_011520656.1:p.Phe653Tyr
NM_001287.6:c.2132T>A MANE Select NP_001278.1:p.Phe711Tyr
NM_001114331.3:c.2060T>A NP_001107803.1:p.Phe687Tyr