Canonical Allele Identifier: CA10647823
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 317911
ClinVar RCV Id: RCV000342114
dbSNP Id: rs886051690
gnomAD v2: 16-1495229-T-G
gnomAD v3: 16-1445228-T-G
gnomAD v4: 16-1445228-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1445228T>G , CM000678.2:g.1445228T>G GRCh38
NC_000016.9:g.1495229T>G , CM000678.1:g.1495229T>G GRCh37
NC_000016.8:g.1435230T>G NCBI36
NG_007567.1:g.34857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382745.9:c.*1403A>C MANE Select ENSP00000372193.4:n.*1403A>C
ENST00000382745.8:c.*1403A>C ENSP00000372193.4:n.*1403A>C
ENST00000448525.5:c.*1403A>C ENSP00000410907.1:n.*1403A>C
ENST00000563642.6:n.3890A>C
NM_001114331.2:c.*1403A>C NP_001107803.1:n.*1403A>C
NM_001287.5:c.*1403A>C NP_001278.1:n.*1403A>C
XM_011522354.1:c.*1403A>C XP_011520656.1:n.*1403A>C
NM_001287.6:c.*1403A>C MANE Select NP_001278.1:n.*1403A>C
NM_001114331.3:c.*1403A>C NP_001107803.1:n.*1403A>C