Canonical Allele Identifier: CA7809863

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1095000
• ClinVar RCV Id: RCV001415722
• dbSNP Id: rs146048095
• ExAC: 16:1497079 C / T
• gnomAD v2: 16-1497079-C-T
• gnomAD v3: 16-1447078-C-T
• gnomAD v4: 16-1447078-C-T
• MyVariant Identifiers: chr16:g.1497079C>T (hg19) ; chr16:g.1447078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447078C>T , CM000678.2:g.1447078C>T	GRCh38
NC_000016.9:g.1497079C>T , CM000678.1:g.1497079C>T	GRCh37
NC_000016.8:g.1437080C>T	NCBI36
NG_007567.1:g.33007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2259G>A	ENSP00000514703.1:p.Ser753=
ENST00000699948.1:c.*572G>A	ENSP00000514704.1:n.*572G>A
ENST00000382745.9:c.2259G>A MANE Select	ENSP00000372193.4:p.Ser753=
ENST00000262318.12:c.2188G>A	ENSP00000262318.8:p.Ala730Thr
ENST00000382745.8:c.2259G>A	ENSP00000372193.4:p.Ser753=
ENST00000448525.5:c.2187G>A	ENSP00000410907.1:p.Ser729=
ENST00000563642.6:n.2328G>A
ENST00000565092.6:n.1294G>A
ENST00000567836.2:n.500G>A
NM_001114331.2:c.2187G>A	NP_001107803.1:p.Ser729=
NM_001287.5:c.2259G>A	NP_001278.1:p.Ser753=
XM_011522354.1:c.2085G>A	XP_011520656.1:p.Ser695=
NM_001287.6:c.2259G>A MANE Select	NP_001278.1:p.Ser753=
NM_001114331.3:c.2187G>A	NP_001107803.1:p.Ser729=