Canonical Allele Identifier: CA2201646841

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447396G= , CM000678.2:g.1447396G=	GRCh38
NC_000016.9:g.1497397G= , CM000678.1:g.1497397G=	GRCh37
NC_000016.8:g.1437398G=	NCBI36
NG_007567.1:g.32689C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2246C=	ENSP00000514703.1:p.Pro749=
ENST00000699948.1:c.*559C=	ENSP00000514704.1:n.*559C=
ENST00000382745.9:c.2246C= MANE Select	ENSP00000372193.4:p.Pro749=
ENST00000262318.12:c.2174C=	ENSP00000262318.8:p.Pro725=
ENST00000382745.8:c.2246C=	ENSP00000372193.4:p.Pro749=
ENST00000448525.5:c.2174C=	ENSP00000410907.1:p.Pro725=
ENST00000563642.6:n.2315C=
ENST00000565092.6:n.1281C=
ENST00000567836.2:n.487C=
NM_001114331.2:c.2174C=	NP_001107803.1:p.Pro725=
NM_001287.5:c.2246C=	NP_001278.1:p.Pro749=
XM_011522354.1:c.2072C=	XP_011520656.1:p.Pro691=
NM_001287.6:c.2246C= MANE Select	NP_001278.1:p.Pro749=
NM_001114331.3:c.2174C=	NP_001107803.1:p.Pro725=