Canonical Allele Identifier: CA264215

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 56890
• ClinVar RCV Id: RCV000050235 ; RCV000055847 ; RCV000480176
• dbSNP Id: rs387907576
• MyVariant Identifiers: chr16:g.1511461T>C (hg19) ; chr16:g.1461460T>C (hg38)
• PubMed: PMID:16118345 ; PMID:20301306 ; PMID:23296056

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461460T>C , CM000678.2:g.1461460T>C	GRCh38
NC_000016.9:g.1511461T>C , CM000678.1:g.1511461T>C	GRCh37
NC_000016.8:g.1451462T>C	NCBI36
NG_007567.1:g.18625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.296A>G	ENSP00000514703.1:p.Tyr99Cys
ENST00000699948.1:c.296A>G	ENSP00000514704.1:p.Tyr99Cys
ENST00000699950.1:n.248A>G
ENST00000382745.9:c.296A>G MANE Select	ENSP00000372193.4:p.Tyr99Cys
ENST00000262318.12:c.224A>G	ENSP00000262318.8:p.Tyr75Cys
ENST00000382745.8:c.296A>G	ENSP00000372193.4:p.Tyr99Cys
ENST00000448525.5:c.224A>G	ENSP00000410907.1:p.Tyr75Cys
ENST00000561665.5:n.326A>G
ENST00000564568.1:c.191A>G	ENSP00000454845.1:p.Tyr64Cys
ENST00000567139.1:n.347A>G
ENST00000569851.6:c.122A>G	ENSP00000461009.1:p.Tyr41Cys
NM_001114331.2:c.224A>G	NP_001107803.1:p.Tyr75Cys
NM_001287.5:c.296A>G	NP_001278.1:p.Tyr99Cys
XM_011522354.1:c.122A>G	XP_011520656.1:p.Tyr41Cys
NM_001287.6:c.296A>G MANE Select	NP_001278.1:p.Tyr99Cys
NM_001114331.3:c.224A>G	NP_001107803.1:p.Tyr75Cys