Canonical Allele Identifier: CA2201666863

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449276C= , CM000678.2:g.1449276C=	GRCh38
NC_000016.9:g.1499277C= , CM000678.1:g.1499277C=	GRCh37
NC_000016.8:g.1439278C=	NCBI36
NG_007567.1:g.30809G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1669G=	ENSP00000514703.1:p.Gly557=
ENST00000699948.1:c.1624-183G=	ENSP00000514704.1:n.1624-183G=
ENST00000382745.9:c.1669G= MANE Select	ENSP00000372193.4:p.Gly557=
ENST00000262318.12:c.1597G=	ENSP00000262318.8:p.Gly533=
ENST00000382745.8:c.1669G=	ENSP00000372193.4:p.Gly557=
ENST00000448525.5:c.1597G=	ENSP00000410907.1:p.Gly533=
ENST00000563642.6:n.1738G=
ENST00000565092.6:n.522G=
NM_001114331.2:c.1597G=	NP_001107803.1:p.Gly533=
NM_001287.5:c.1669G=	NP_001278.1:p.Gly557=
XM_011522354.1:c.1495G=	XP_011520656.1:p.Gly499=
NM_001287.6:c.1669G= MANE Select	NP_001278.1:p.Gly557=
NM_001114331.3:c.1597G=	NP_001107803.1:p.Gly533=