Canonical Allele Identifier: CA2201646577

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447007T= , CM000678.2:g.1447007T=	GRCh38
NC_000016.9:g.1497008T= , CM000678.1:g.1497008T=	GRCh37
NC_000016.8:g.1437009T=	NCBI36
NG_007567.1:g.33078A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2330A=	ENSP00000514703.1:p.Gln777=
ENST00000699948.1:c.*643A=	ENSP00000514704.1:n.*643A=
ENST00000382745.9:c.2330A= MANE Select	ENSP00000372193.4:p.Gln777=
ENST00000262318.12:c.2259A=	ENSP00000262318.8:p.Ser753=
ENST00000382745.8:c.2330A=	ENSP00000372193.4:p.Gln777=
ENST00000448525.5:c.2258A=	ENSP00000410907.1:p.Gln753=
ENST00000563642.6:n.2399A=
ENST00000565092.6:n.1365A=
ENST00000567836.2:n.571A=
NM_001114331.2:c.2258A=	NP_001107803.1:p.Gln753=
NM_001287.5:c.2330A=	NP_001278.1:p.Gln777=
XM_011522354.1:c.2156A=	XP_011520656.1:p.Gln719=
NM_001287.6:c.2330A= MANE Select	NP_001278.1:p.Gln777=
NM_001114331.3:c.2258A=	NP_001107803.1:p.Gln753=