Canonical Allele Identifier: CA2201646598

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447039C= , CM000678.2:g.1447039C=	GRCh38
NC_000016.9:g.1497040C= , CM000678.1:g.1497040C=	GRCh37
NC_000016.8:g.1437041C=	NCBI36
NG_007567.1:g.33046G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2298G=	ENSP00000514703.1:p.Leu766=
ENST00000699948.1:c.*611G=	ENSP00000514704.1:n.*611G=
ENST00000382745.9:c.2298G= MANE Select	ENSP00000372193.4:p.Leu766=
ENST00000262318.12:c.2227G=	ENSP00000262318.8:p.Ala743=
ENST00000382745.8:c.2298G=	ENSP00000372193.4:p.Leu766=
ENST00000448525.5:c.2226G=	ENSP00000410907.1:p.Leu742=
ENST00000563642.6:n.2367G=
ENST00000565092.6:n.1333G=
ENST00000567836.2:n.539G=
NM_001114331.2:c.2226G=	NP_001107803.1:p.Leu742=
NM_001287.5:c.2298G=	NP_001278.1:p.Leu766=
XM_011522354.1:c.2124G=	XP_011520656.1:p.Leu708=
NM_001287.6:c.2298G= MANE Select	NP_001278.1:p.Leu766=
NM_001114331.3:c.2226G=	NP_001107803.1:p.Leu742=