Canonical Allele Identifier: CA2201646593

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447030C= , CM000678.2:g.1447030C=	GRCh38
NC_000016.9:g.1497031C= , CM000678.1:g.1497031C=	GRCh37
NC_000016.8:g.1437032C=	NCBI36
NG_007567.1:g.33055G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2307G=	ENSP00000514703.1:p.Leu769=
ENST00000699948.1:c.*620G=	ENSP00000514704.1:n.*620G=
ENST00000382745.9:c.2307G= MANE Select	ENSP00000372193.4:p.Leu769=
ENST00000262318.12:c.2236G=	ENSP00000262318.8:p.Gly746=
ENST00000382745.8:c.2307G=	ENSP00000372193.4:p.Leu769=
ENST00000448525.5:c.2235G=	ENSP00000410907.1:p.Leu745=
ENST00000563642.6:n.2376G=
ENST00000565092.6:n.1342G=
ENST00000567836.2:n.548G=
NM_001114331.2:c.2235G=	NP_001107803.1:p.Leu745=
NM_001287.5:c.2307G=	NP_001278.1:p.Leu769=
XM_011522354.1:c.2133G=	XP_011520656.1:p.Leu711=
NM_001287.6:c.2307G= MANE Select	NP_001278.1:p.Leu769=
NM_001114331.3:c.2235G=	NP_001107803.1:p.Leu745=