Canonical Allele Identifier: CA2201646879

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447481T= , CM000678.2:g.1447481T=	GRCh38
NC_000016.9:g.1497482T= , CM000678.1:g.1497482T=	GRCh37
NC_000016.8:g.1437483T=	NCBI36
NG_007567.1:g.32604A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2161A=	ENSP00000514703.1:p.Ile721=
ENST00000699948.1:c.*474A=	ENSP00000514704.1:n.*474A=
ENST00000382745.9:c.2161A= MANE Select	ENSP00000372193.4:p.Ile721=
ENST00000262318.12:c.2089A=	ENSP00000262318.8:p.Ile697=
ENST00000382745.8:c.2161A=	ENSP00000372193.4:p.Ile721=
ENST00000448525.5:c.2089A=	ENSP00000410907.1:p.Ile697=
ENST00000563642.6:n.2230A=
ENST00000565092.6:n.1196A=
ENST00000567836.2:n.402A=
NM_001114331.2:c.2089A=	NP_001107803.1:p.Ile697=
NM_001287.5:c.2161A=	NP_001278.1:p.Ile721=
XM_011522354.1:c.1987A=	XP_011520656.1:p.Ile663=
NM_001287.6:c.2161A= MANE Select	NP_001278.1:p.Ile721=
NM_001114331.3:c.2089A=	NP_001107803.1:p.Ile697=