Canonical Allele Identifier: CA394185692
Gene: CLCN7 HGNC NCBI

Linked Data

gnomAD v4: 16-1447502-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447502C>A , CM000678.2:g.1447502C>A GRCh38
NC_000016.9:g.1497503C>A , CM000678.1:g.1497503C>A GRCh37
NC_000016.8:g.1437504C>A NCBI36
NG_007567.1:g.32583G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699947.1:c.2140G>T ENSP00000514703.1:p.Ala714Ser
ENST00000699948.1:c.*453G>T ENSP00000514704.1:n.*453G>T
ENST00000382745.9:c.2140G>T MANE Select ENSP00000372193.4:p.Ala714Ser
ENST00000262318.12:c.2068G>T ENSP00000262318.8:p.Ala690Ser
ENST00000382745.8:c.2140G>T ENSP00000372193.4:p.Ala714Ser
ENST00000448525.5:c.2068G>T ENSP00000410907.1:p.Ala690Ser
ENST00000563642.6:n.2209G>T
ENST00000565092.6:n.1175G>T
ENST00000567836.2:n.381G>T
NM_001114331.2:c.2068G>T NP_001107803.1:p.Ala690Ser
NM_001287.5:c.2140G>T NP_001278.1:p.Ala714Ser
XM_011522354.1:c.1966G>T XP_011520656.1:p.Ala656Ser
NM_001287.6:c.2140G>T MANE Select NP_001278.1:p.Ala714Ser
NM_001114331.3:c.2068G>T NP_001107803.1:p.Ala690Ser