Canonical Allele Identifier: CA2201646929

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447566C= , CM000678.2:g.1447566C=	GRCh38
NC_000016.9:g.1497567C= , CM000678.1:g.1497567C=	GRCh37
NC_000016.8:g.1437568C=	NCBI36
NG_007567.1:g.32519G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2076G=	ENSP00000514703.1:p.Val692=
ENST00000699948.1:c.*389G=	ENSP00000514704.1:n.*389G=
ENST00000382745.9:c.2076G= MANE Select	ENSP00000372193.4:p.Val692=
ENST00000262318.12:c.2004G=	ENSP00000262318.8:p.Val668=
ENST00000382745.8:c.2076G=	ENSP00000372193.4:p.Val692=
ENST00000448525.5:c.2004G=	ENSP00000410907.1:p.Val668=
ENST00000563642.6:n.2145G=
ENST00000565092.6:n.1111G=
ENST00000567836.2:n.317G=
NM_001114331.2:c.2004G=	NP_001107803.1:p.Val668=
NM_001287.5:c.2076G=	NP_001278.1:p.Val692=
XM_011522354.1:c.1902G=	XP_011520656.1:p.Val634=
NM_001287.6:c.2076G= MANE Select	NP_001278.1:p.Val692=
NM_001114331.3:c.2004G=	NP_001107803.1:p.Val668=