Canonical Allele Identifier: CA394192491

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510867T>A (hg19) ; chr16:g.1460866T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460866T>A , CM000678.2:g.1460866T>A	GRCh38
NC_000016.9:g.1510867T>A , CM000678.1:g.1510867T>A	GRCh37
NC_000016.8:g.1450868T>A	NCBI36
NG_007567.1:g.19219A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.434A>T	ENSP00000514703.1:p.Asp145Val
ENST00000699948.1:c.434A>T	ENSP00000514704.1:p.Asp145Val
ENST00000699950.1:n.386A>T
ENST00000382745.9:c.434A>T MANE Select	ENSP00000372193.4:p.Asp145Val
ENST00000262318.12:c.362A>T	ENSP00000262318.8:p.Asp121Val
ENST00000382745.8:c.434A>T	ENSP00000372193.4:p.Asp145Val
ENST00000448525.5:c.362A>T	ENSP00000410907.1:p.Asp121Val
ENST00000561665.5:n.464A>T
ENST00000564568.1:c.329A>T	ENSP00000454845.1:p.Asp110Val
ENST00000567139.1:n.485A>T
ENST00000569851.6:c.260A>T	ENSP00000461009.1:p.Asp87Val
NM_001114331.2:c.362A>T	NP_001107803.1:p.Asp121Val
NM_001287.5:c.434A>T	NP_001278.1:p.Asp145Val
XM_011522354.1:c.260A>T	XP_011520656.1:p.Asp87Val
NM_001287.6:c.434A>T MANE Select	NP_001278.1:p.Asp145Val
NM_001114331.3:c.362A>T	NP_001107803.1:p.Asp121Val