Canonical Allele Identifier: CA394192349

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510823T>A (hg19) ; chr16:g.1460822T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460822T>A , CM000678.2:g.1460822T>A	GRCh38
NC_000016.9:g.1510823T>A , CM000678.1:g.1510823T>A	GRCh37
NC_000016.8:g.1450824T>A	NCBI36
NG_007567.1:g.19263A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.478A>T	ENSP00000514703.1:p.Lys160Ter
ENST00000699948.1:c.478A>T	ENSP00000514704.1:p.Lys160Ter
ENST00000699950.1:n.430A>T
ENST00000382745.9:c.478A>T MANE Select	ENSP00000372193.4:p.Lys160Ter
ENST00000262318.12:c.406A>T	ENSP00000262318.8:p.Lys136Ter
ENST00000382745.8:c.478A>T	ENSP00000372193.4:p.Lys160Ter
ENST00000448525.5:c.406A>T	ENSP00000410907.1:p.Lys136Ter
ENST00000561665.5:n.508A>T
ENST00000567139.1:n.529A>T
ENST00000569851.6:c.304A>T	ENSP00000461009.1:p.Lys102Ter
NM_001114331.2:c.406A>T	NP_001107803.1:p.Lys136Ter
NM_001287.5:c.478A>T	NP_001278.1:p.Lys160Ter
XM_011522354.1:c.304A>T	XP_011520656.1:p.Lys102Ter
NM_001287.6:c.478A>T MANE Select	NP_001278.1:p.Lys160Ter
NM_001114331.3:c.406A>T	NP_001107803.1:p.Lys136Ter