Canonical Allele Identifier: CA7810796

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 727377
• ClinVar RCV Id: RCV000901709 ; RCV001118590 ; RCV003910759
• dbSNP Id: rs139649449
• ExAC: 16:1510890 C / T
• gnomAD v2: 16-1510890-C-T
• gnomAD v3: 16-1460889-C-T
• gnomAD v4: 16-1460889-C-T
• MyVariant Identifiers: chr16:g.1510890C>T (hg19) ; chr16:g.1460889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460889C>T , CM000678.2:g.1460889C>T	GRCh38
NC_000016.9:g.1510890C>T , CM000678.1:g.1510890C>T	GRCh37
NC_000016.8:g.1450891C>T	NCBI36
NG_007567.1:g.19196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.411G>A	ENSP00000514703.1:p.Thr137=
ENST00000699948.1:c.411G>A	ENSP00000514704.1:p.Thr137=
ENST00000699950.1:n.363G>A
ENST00000382745.9:c.411G>A MANE Select	ENSP00000372193.4:p.Thr137=
ENST00000262318.12:c.339G>A	ENSP00000262318.8:p.Thr113=
ENST00000382745.8:c.411G>A	ENSP00000372193.4:p.Thr137=
ENST00000448525.5:c.339G>A	ENSP00000410907.1:p.Thr113=
ENST00000561665.5:n.441G>A
ENST00000564568.1:c.306G>A	ENSP00000454845.1:p.Thr102=
ENST00000567139.1:n.462G>A
ENST00000569851.6:c.237G>A	ENSP00000461009.1:p.Thr79=
NM_001114331.2:c.339G>A	NP_001107803.1:p.Thr113=
NM_001287.5:c.411G>A	NP_001278.1:p.Thr137=
XM_011522354.1:c.237G>A	XP_011520656.1:p.Thr79=
NM_001287.6:c.411G>A MANE Select	NP_001278.1:p.Thr137=
NM_001114331.3:c.339G>A	NP_001107803.1:p.Thr113=