Canonical Allele Identifier: CA394192472

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510861A>T (hg19) ; chr16:g.1460860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460860A>T , CM000678.2:g.1460860A>T	GRCh38
NC_000016.9:g.1510861A>T , CM000678.1:g.1510861A>T	GRCh37
NC_000016.8:g.1450862A>T	NCBI36
NG_007567.1:g.19225T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.440T>A	ENSP00000514703.1:p.Val147Glu
ENST00000699948.1:c.440T>A	ENSP00000514704.1:p.Val147Glu
ENST00000699950.1:n.392T>A
ENST00000382745.9:c.440T>A MANE Select	ENSP00000372193.4:p.Val147Glu
ENST00000262318.12:c.368T>A	ENSP00000262318.8:p.Val123Glu
ENST00000382745.8:c.440T>A	ENSP00000372193.4:p.Val147Glu
ENST00000448525.5:c.368T>A	ENSP00000410907.1:p.Val123Glu
ENST00000561665.5:n.470T>A
ENST00000564568.1:c.335T>A	ENSP00000454845.1:p.Val112Glu
ENST00000567139.1:n.491T>A
ENST00000569851.6:c.266T>A	ENSP00000461009.1:p.Val89Glu
NM_001114331.2:c.368T>A	NP_001107803.1:p.Val123Glu
NM_001287.5:c.440T>A	NP_001278.1:p.Val147Glu
XM_011522354.1:c.266T>A	XP_011520656.1:p.Val89Glu
NM_001287.6:c.440T>A MANE Select	NP_001278.1:p.Val147Glu
NM_001114331.3:c.368T>A	NP_001107803.1:p.Val123Glu