Canonical Allele Identifier: CA7809908

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1378919
• ClinVar RCV Id: RCV001891861
• dbSNP Id: rs760171498
• ExAC: 16:1497508 C / T
• gnomAD v2: 16-1497508-C-T
• gnomAD v4: 16-1447507-C-T
• MyVariant Identifiers: chr16:g.1497508C>T (hg19) ; chr16:g.1447507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447507C>T , CM000678.2:g.1447507C>T	GRCh38
NC_000016.9:g.1497508C>T , CM000678.1:g.1497508C>T	GRCh37
NC_000016.8:g.1437509C>T	NCBI36
NG_007567.1:g.32578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2135G>A	ENSP00000514703.1:p.Arg712Gln
ENST00000699948.1:c.*448G>A	ENSP00000514704.1:n.*448G>A
ENST00000382745.9:c.2135G>A MANE Select	ENSP00000372193.4:p.Arg712Gln
ENST00000262318.12:c.2063G>A	ENSP00000262318.8:p.Arg688Gln
ENST00000382745.8:c.2135G>A	ENSP00000372193.4:p.Arg712Gln
ENST00000448525.5:c.2063G>A	ENSP00000410907.1:p.Arg688Gln
ENST00000563642.6:n.2204G>A
ENST00000565092.6:n.1170G>A
ENST00000567836.2:n.376G>A
NM_001114331.2:c.2063G>A	NP_001107803.1:p.Arg688Gln
NM_001287.5:c.2135G>A	NP_001278.1:p.Arg712Gln
XM_011522354.1:c.1961G>A	XP_011520656.1:p.Arg654Gln
NM_001287.6:c.2135G>A MANE Select	NP_001278.1:p.Arg712Gln
NM_001114331.3:c.2063G>A	NP_001107803.1:p.Arg688Gln