Canonical Allele Identifier: CA394185689
Gene: CLCN7 HGNC NCBI

Linked Data

dbSNP Id: rs1336593109
gnomAD v2: 16-1497502-G-A
gnomAD v3: 16-1447501-G-A
gnomAD v4: 16-1447501-G-A
COSMIC: COSM967291

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447501G>A , CM000678.2:g.1447501G>A GRCh38
NC_000016.9:g.1497502G>A , CM000678.1:g.1497502G>A GRCh37
NC_000016.8:g.1437503G>A NCBI36
NG_007567.1:g.32584C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699947.1:c.2141C>T ENSP00000514703.1:p.Ala714Val
ENST00000699948.1:c.*454C>T ENSP00000514704.1:n.*454C>T
ENST00000382745.9:c.2141C>T MANE Select ENSP00000372193.4:p.Ala714Val
ENST00000262318.12:c.2069C>T ENSP00000262318.8:p.Ala690Val
ENST00000382745.8:c.2141C>T ENSP00000372193.4:p.Ala714Val
ENST00000448525.5:c.2069C>T ENSP00000410907.1:p.Ala690Val
ENST00000563642.6:n.2210C>T
ENST00000565092.6:n.1176C>T
ENST00000567836.2:n.382C>T
NM_001114331.2:c.2069C>T NP_001107803.1:p.Ala690Val
NM_001287.5:c.2141C>T NP_001278.1:p.Ala714Val
XM_011522354.1:c.1967C>T XP_011520656.1:p.Ala656Val
NM_001287.6:c.2141C>T MANE Select NP_001278.1:p.Ala714Val
NM_001114331.3:c.2069C>T NP_001107803.1:p.Ala690Val