Canonical Allele Identifier: CA200401
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 193203
ClinVar RCV Id: RCV000173250 RCV000398254 RCV001516367 RCV001544227 RCV001544228 RCV001544229
dbSNP Id: rs3751884
ExAC: 16:1524850 A / G
gnomAD v2: 16-1524850-A-G
gnomAD v3: 16-1474849-A-G
gnomAD v4: 16-1474849-A-G
MyVariant Identifiers: chr16:g.1524850A>G (hg19) chr16:g.1474849A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1474849A>G , CM000678.2:g.1474849A>G GRCh38
NC_000016.9:g.1524850A>G , CM000678.1:g.1524850A>G GRCh37
NC_000016.8:g.1464851A>G NCBI36
NG_007567.1:g.5236T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.126T>C ENSP00000514703.1:p.Pro42=
ENST00000699948.1:c.126T>C ENSP00000514704.1:p.Pro42=
ENST00000699950.1:n.78T>C
ENST00000382745.9:c.126T>C MANE Select ENSP00000372193.4:p.Pro42=
ENST00000262318.12:c.126T>C ENSP00000262318.8:p.Pro42=
ENST00000382745.8:c.126T>C ENSP00000372193.4:p.Pro42=
ENST00000448525.5:c.126T>C ENSP00000410907.1:p.Pro42=
ENST00000561665.5:n.228T>C
ENST00000566812.1:n.229T>C
ENST00000567139.1:n.177T>C
NM_001114331.2:c.126T>C NP_001107803.1:p.Pro42=
NM_001287.5:c.126T>C NP_001278.1:p.Pro42=
NM_001287.6:c.126T>C MANE Select NP_001278.1:p.Pro42=
NM_001114331.3:c.126T>C NP_001107803.1:p.Pro42=
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