Canonical Allele Identifier: CA394192410

Gene: CLCN7

Linked Data

• COSMIC: COSM471334
• MyVariant Identifiers: chr16:g.1510843C>A (hg19) ; chr16:g.1460842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460842C>A , CM000678.2:g.1460842C>A	GRCh38
NC_000016.9:g.1510843C>A , CM000678.1:g.1510843C>A	GRCh37
NC_000016.8:g.1450844C>A	NCBI36
NG_007567.1:g.19243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.458G>T	ENSP00000514703.1:p.Gly153Val
ENST00000699948.1:c.458G>T	ENSP00000514704.1:p.Gly153Val
ENST00000699950.1:n.410G>T
ENST00000382745.9:c.458G>T MANE Select	ENSP00000372193.4:p.Gly153Val
ENST00000262318.12:c.386G>T	ENSP00000262318.8:p.Gly129Val
ENST00000382745.8:c.458G>T	ENSP00000372193.4:p.Gly153Val
ENST00000448525.5:c.386G>T	ENSP00000410907.1:p.Gly129Val
ENST00000561665.5:n.488G>T
ENST00000564568.1:c.353G>T	ENSP00000454845.1:p.Gly118Val
ENST00000567139.1:n.509G>T
ENST00000569851.6:c.284G>T	ENSP00000461009.1:p.Gly95Val
NM_001114331.2:c.386G>T	NP_001107803.1:p.Gly129Val
NM_001287.5:c.458G>T	NP_001278.1:p.Gly153Val
XM_011522354.1:c.284G>T	XP_011520656.1:p.Gly95Val
NM_001287.6:c.458G>T MANE Select	NP_001278.1:p.Gly153Val
NM_001114331.3:c.386G>T	NP_001107803.1:p.Gly129Val