Canonical Allele Identifier: CA2201646853

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447425C= , CM000678.2:g.1447425C=	GRCh38
NC_000016.9:g.1497426C= , CM000678.1:g.1497426C=	GRCh37
NC_000016.8:g.1437427C=	NCBI36
NG_007567.1:g.32660G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2217G=	ENSP00000514703.1:p.Glu739=
ENST00000699948.1:c.*530G=	ENSP00000514704.1:n.*530G=
ENST00000382745.9:c.2217G= MANE Select	ENSP00000372193.4:p.Glu739=
ENST00000262318.12:c.2145G=	ENSP00000262318.8:p.Glu715=
ENST00000382745.8:c.2217G=	ENSP00000372193.4:p.Glu739=
ENST00000448525.5:c.2145G=	ENSP00000410907.1:p.Glu715=
ENST00000563642.6:n.2286G=
ENST00000565092.6:n.1252G=
ENST00000567836.2:n.458G=
NM_001114331.2:c.2145G=	NP_001107803.1:p.Glu715=
NM_001287.5:c.2217G=	NP_001278.1:p.Glu739=
XM_011522354.1:c.2043G=	XP_011520656.1:p.Glu681=
NM_001287.6:c.2217G= MANE Select	NP_001278.1:p.Glu739=
NM_001114331.3:c.2145G=	NP_001107803.1:p.Glu715=