Canonical Allele Identifier: CA118542
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6865
ClinVar RCV Id: RCV000007268
dbSNP Id: rs121434436

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1457295T>A , CM000678.2:g.1457295T>A GRCh38
NC_000016.9:g.1507296T>A , CM000678.1:g.1507296T>A GRCh37
NC_000016.8:g.1447297T>A NCBI36
NG_007567.1:g.22790A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699947.1:c.781A>T ENSP00000514703.1:p.Ile261Phe
ENST00000699948.1:c.781A>T ENSP00000514704.1:p.Ile261Phe
ENST00000699950.1:n.733A>T
ENST00000382745.9:c.781A>T MANE Select ENSP00000372193.4:p.Ile261Phe
ENST00000262318.12:c.709A>T ENSP00000262318.8:p.Ile237Phe
ENST00000382745.8:c.781A>T ENSP00000372193.4:p.Ile261Phe
ENST00000448525.5:c.709A>T ENSP00000410907.1:p.Ile237Phe
ENST00000563822.1:n.412A>T
ENST00000569851.6:c.607A>T ENSP00000461009.1:p.Ile203Phe
NM_001114331.2:c.709A>T NP_001107803.1:p.Ile237Phe
NM_001287.5:c.781A>T NP_001278.1:p.Ile261Phe
XM_011522354.1:c.607A>T XP_011520656.1:p.Ile203Phe
NM_001287.6:c.781A>T MANE Select NP_001278.1:p.Ile261Phe
NM_001114331.3:c.709A>T NP_001107803.1:p.Ile237Phe