Canonical Allele Identifier: CA394185765

Gene: CLCN7

Linked Data

• dbSNP Id: rs1426939582
• gnomAD v2: 16-1497539-C-T
• gnomAD v4: 16-1447538-C-T
• MyVariant Identifiers: chr16:g.1497539C>T (hg19) ; chr16:g.1447538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447538C>T , CM000678.2:g.1447538C>T	GRCh38
NC_000016.9:g.1497539C>T , CM000678.1:g.1497539C>T	GRCh37
NC_000016.8:g.1437540C>T	NCBI36
NG_007567.1:g.32547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2104G>A	ENSP00000514703.1:p.Val702Ile
ENST00000699948.1:c.*417G>A	ENSP00000514704.1:n.*417G>A
ENST00000382745.9:c.2104G>A MANE Select	ENSP00000372193.4:p.Val702Ile
ENST00000262318.12:c.2032G>A	ENSP00000262318.8:p.Val678Ile
ENST00000382745.8:c.2104G>A	ENSP00000372193.4:p.Val702Ile
ENST00000448525.5:c.2032G>A	ENSP00000410907.1:p.Val678Ile
ENST00000563642.6:n.2173G>A
ENST00000565092.6:n.1139G>A
ENST00000567836.2:n.345G>A
NM_001114331.2:c.2032G>A	NP_001107803.1:p.Val678Ile
NM_001287.5:c.2104G>A	NP_001278.1:p.Val702Ile
XM_011522354.1:c.1930G>A	XP_011520656.1:p.Val644Ile
NM_001287.6:c.2104G>A MANE Select	NP_001278.1:p.Val702Ile
NM_001114331.3:c.2032G>A	NP_001107803.1:p.Val678Ile