Canonical Allele Identifier: CA394192457

Gene: CLCN7

Linked Data

• dbSNP Id: rs1423860962
• gnomAD v2: 16-1510856-C-T
• MyVariant Identifiers: chr16:g.1510856C>T (hg19) ; chr16:g.1460855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460855C>T , CM000678.2:g.1460855C>T	GRCh38
NC_000016.9:g.1510856C>T , CM000678.1:g.1510856C>T	GRCh37
NC_000016.8:g.1450857C>T	NCBI36
NG_007567.1:g.19230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.445G>A	ENSP00000514703.1:p.Glu149Lys
ENST00000699948.1:c.445G>A	ENSP00000514704.1:p.Glu149Lys
ENST00000699950.1:n.397G>A
ENST00000382745.9:c.445G>A MANE Select	ENSP00000372193.4:p.Glu149Lys
ENST00000262318.12:c.373G>A	ENSP00000262318.8:p.Glu125Lys
ENST00000382745.8:c.445G>A	ENSP00000372193.4:p.Glu149Lys
ENST00000448525.5:c.373G>A	ENSP00000410907.1:p.Glu125Lys
ENST00000561665.5:n.475G>A
ENST00000564568.1:c.340G>A	ENSP00000454845.1:p.Glu114Lys
ENST00000567139.1:n.496G>A
ENST00000569851.6:c.271G>A	ENSP00000461009.1:p.Glu91Lys
NM_001114331.2:c.373G>A	NP_001107803.1:p.Glu125Lys
NM_001287.5:c.445G>A	NP_001278.1:p.Glu149Lys
XM_011522354.1:c.271G>A	XP_011520656.1:p.Glu91Lys
NM_001287.6:c.445G>A MANE Select	NP_001278.1:p.Glu149Lys
NM_001114331.3:c.373G>A	NP_001107803.1:p.Glu125Lys