Canonical Allele Identifier: CA394185412
Gene: CLCN7 HGNC NCBI

Linked Data

dbSNP Id: rs1428864451
gnomAD v2: 16-1497083-G-A
gnomAD v3: 16-1447082-G-A
gnomAD v4: 16-1447082-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447082G>A , CM000678.2:g.1447082G>A GRCh38
NC_000016.9:g.1497083G>A , CM000678.1:g.1497083G>A GRCh37
NC_000016.8:g.1437084G>A NCBI36
NG_007567.1:g.33003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.2255C>T ENSP00000514703.1:p.Ala752Val
ENST00000699948.1:c.*568C>T ENSP00000514704.1:n.*568C>T
ENST00000382745.9:c.2255C>T MANE Select ENSP00000372193.4:p.Ala752Val
ENST00000262318.12:c.2184C>T ENSP00000262318.8:p.Cys728=
ENST00000382745.8:c.2255C>T ENSP00000372193.4:p.Ala752Val
ENST00000448525.5:c.2183C>T ENSP00000410907.1:p.Ala728Val
ENST00000563642.6:n.2324C>T
ENST00000565092.6:n.1290C>T
ENST00000567836.2:n.496C>T
NM_001114331.2:c.2183C>T NP_001107803.1:p.Ala728Val
NM_001287.5:c.2255C>T NP_001278.1:p.Ala752Val
XM_011522354.1:c.2081C>T XP_011520656.1:p.Ala694Val
NM_001287.6:c.2255C>T MANE Select NP_001278.1:p.Ala752Val
NM_001114331.3:c.2183C>T NP_001107803.1:p.Ala728Val