Canonical Allele Identifier: CA2201646622

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447082G= , CM000678.2:g.1447082G=	GRCh38
NC_000016.9:g.1497083G= , CM000678.1:g.1497083G=	GRCh37
NC_000016.8:g.1437084G=	NCBI36
NG_007567.1:g.33003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2255C=	ENSP00000514703.1:p.Ala752=
ENST00000699948.1:c.*568C=	ENSP00000514704.1:n.*568C=
ENST00000382745.9:c.2255C= MANE Select	ENSP00000372193.4:p.Ala752=
ENST00000262318.12:c.2184C=	ENSP00000262318.8:p.Cys728=
ENST00000382745.8:c.2255C=	ENSP00000372193.4:p.Ala752=
ENST00000448525.5:c.2183C=	ENSP00000410907.1:p.Ala728=
ENST00000563642.6:n.2324C=
ENST00000565092.6:n.1290C=
ENST00000567836.2:n.496C=
NM_001114331.2:c.2183C=	NP_001107803.1:p.Ala728=
NM_001287.5:c.2255C=	NP_001278.1:p.Ala752=
XM_011522354.1:c.2081C=	XP_011520656.1:p.Ala694=
NM_001287.6:c.2255C= MANE Select	NP_001278.1:p.Ala752=
NM_001114331.3:c.2183C=	NP_001107803.1:p.Ala728=