Canonical Allele Identifier: CA7809909

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1353341
• ClinVar RCV Id: RCV001885505 ; RCV003164052
• dbSNP Id: rs368724913
• ExAC: 16:1497509 G / C
• gnomAD v2: 16-1497509-G-C
• gnomAD v3: 16-1447508-G-C
• gnomAD v4: 16-1447508-G-C
• MyVariant Identifiers: chr16:g.1497509G>C (hg19) ; chr16:g.1447508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447508G>C , CM000678.2:g.1447508G>C	GRCh38
NC_000016.9:g.1497509G>C , CM000678.1:g.1497509G>C	GRCh37
NC_000016.8:g.1437510G>C	NCBI36
NG_007567.1:g.32577C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2134C>G	ENSP00000514703.1:p.Arg712Gly
ENST00000699948.1:c.*447C>G	ENSP00000514704.1:n.*447C>G
ENST00000382745.9:c.2134C>G MANE Select	ENSP00000372193.4:p.Arg712Gly
ENST00000262318.12:c.2062C>G	ENSP00000262318.8:p.Arg688Gly
ENST00000382745.8:c.2134C>G	ENSP00000372193.4:p.Arg712Gly
ENST00000448525.5:c.2062C>G	ENSP00000410907.1:p.Arg688Gly
ENST00000563642.6:n.2203C>G
ENST00000565092.6:n.1169C>G
ENST00000567836.2:n.375C>G
NM_001114331.2:c.2062C>G	NP_001107803.1:p.Arg688Gly
NM_001287.5:c.2134C>G	NP_001278.1:p.Arg712Gly
XM_011522354.1:c.1960C>G	XP_011520656.1:p.Arg654Gly
NM_001287.6:c.2134C>G MANE Select	NP_001278.1:p.Arg712Gly
NM_001114331.3:c.2062C>G	NP_001107803.1:p.Arg688Gly