Canonical Allele Identifier: CA344955

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 65635
• ClinVar RCV Id: RCV001843355 ; RCV001781390 ; RCV003415823
• dbSNP Id: rs397515539
• gnomAD v4: 16-1459139-C-T
• MyVariant Identifiers: chr16:g.1509140C>T (hg19) ; chr16:g.1459139C>T (hg38)
• PubMed: PMID:11741829 ; PMID:20301306

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1459139C>T , CM000678.2:g.1459139C>T	GRCh38
NC_000016.9:g.1509140C>T , CM000678.1:g.1509140C>T	GRCh37
NC_000016.8:g.1449141C>T	NCBI36
NG_007567.1:g.20946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.643G>A	ENSP00000514703.1:p.Gly215Arg
ENST00000699948.1:c.643G>A	ENSP00000514704.1:p.Gly215Arg
ENST00000699950.1:n.595G>A
ENST00000382745.9:c.643G>A MANE Select	ENSP00000372193.4:p.Gly215Arg
ENST00000262318.12:c.571G>A	ENSP00000262318.8:p.Gly191Arg
ENST00000382745.8:c.643G>A	ENSP00000372193.4:p.Gly215Arg
ENST00000448525.5:c.571G>A	ENSP00000410907.1:p.Gly191Arg
ENST00000563822.1:n.274G>A
ENST00000564968.1:n.192G>A
ENST00000569851.6:c.469G>A	ENSP00000461009.1:p.Gly157Arg
NM_001114331.2:c.571G>A	NP_001107803.1:p.Gly191Arg
NM_001287.5:c.643G>A	NP_001278.1:p.Gly215Arg
XM_011522354.1:c.469G>A	XP_011520656.1:p.Gly157Arg
NM_001287.6:c.643G>A MANE Select	NP_001278.1:p.Gly215Arg
NM_001114331.3:c.571G>A	NP_001107803.1:p.Gly191Arg