Canonical Allele Identifier: CA394192461

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510858A>T (hg19) ; chr16:g.1460857A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460857A>T , CM000678.2:g.1460857A>T	GRCh38
NC_000016.9:g.1510858A>T , CM000678.1:g.1510858A>T	GRCh37
NC_000016.8:g.1450859A>T	NCBI36
NG_007567.1:g.19228T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.443T>A	ENSP00000514703.1:p.Val148Glu
ENST00000699948.1:c.443T>A	ENSP00000514704.1:p.Val148Glu
ENST00000699950.1:n.395T>A
ENST00000382745.9:c.443T>A MANE Select	ENSP00000372193.4:p.Val148Glu
ENST00000262318.12:c.371T>A	ENSP00000262318.8:p.Val124Glu
ENST00000382745.8:c.443T>A	ENSP00000372193.4:p.Val148Glu
ENST00000448525.5:c.371T>A	ENSP00000410907.1:p.Val124Glu
ENST00000561665.5:n.473T>A
ENST00000564568.1:c.338T>A	ENSP00000454845.1:p.Val113Glu
ENST00000567139.1:n.494T>A
ENST00000569851.6:c.269T>A	ENSP00000461009.1:p.Val90Glu
NM_001114331.2:c.371T>A	NP_001107803.1:p.Val124Glu
NM_001287.5:c.443T>A	NP_001278.1:p.Val148Glu
XM_011522354.1:c.269T>A	XP_011520656.1:p.Val90Glu
NM_001287.6:c.443T>A MANE Select	NP_001278.1:p.Val148Glu
NM_001114331.3:c.371T>A	NP_001107803.1:p.Val124Glu