Canonical Allele Identifier: CA2201646865

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447450C= , CM000678.2:g.1447450C=	GRCh38
NC_000016.9:g.1497451C= , CM000678.1:g.1497451C=	GRCh37
NC_000016.8:g.1437452C=	NCBI36
NG_007567.1:g.32635G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2192G=	ENSP00000514703.1:p.Arg731=
ENST00000699948.1:c.*505G=	ENSP00000514704.1:n.*505G=
ENST00000382745.9:c.2192G= MANE Select	ENSP00000372193.4:p.Arg731=
ENST00000262318.12:c.2120G=	ENSP00000262318.8:p.Arg707=
ENST00000382745.8:c.2192G=	ENSP00000372193.4:p.Arg731=
ENST00000448525.5:c.2120G=	ENSP00000410907.1:p.Arg707=
ENST00000563642.6:n.2261G=
ENST00000565092.6:n.1227G=
ENST00000567836.2:n.433G=
NM_001114331.2:c.2120G=	NP_001107803.1:p.Arg707=
NM_001287.5:c.2192G=	NP_001278.1:p.Arg731=
XM_011522354.1:c.2018G=	XP_011520656.1:p.Arg673=
NM_001287.6:c.2192G= MANE Select	NP_001278.1:p.Arg731=
NM_001114331.3:c.2120G=	NP_001107803.1:p.Arg707=