Canonical Allele Identifier: CA2201679086

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460913G= , CM000678.2:g.1460913G=	GRCh38
NC_000016.9:g.1510914G= , CM000678.1:g.1510914G=	GRCh37
NC_000016.8:g.1450915G=	NCBI36
NG_007567.1:g.19172C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.387C=	ENSP00000514703.1:p.Ile129=
ENST00000699948.1:c.387C=	ENSP00000514704.1:p.Ile129=
ENST00000699950.1:n.339C=
ENST00000382745.9:c.387C= MANE Select	ENSP00000372193.4:p.Ile129=
ENST00000262318.12:c.315C=	ENSP00000262318.8:p.Ile105=
ENST00000382745.8:c.387C=	ENSP00000372193.4:p.Ile129=
ENST00000448525.5:c.315C=	ENSP00000410907.1:p.Ile105=
ENST00000561665.5:n.417C=
ENST00000564568.1:c.282C=	ENSP00000454845.1:p.Ile94=
ENST00000567139.1:n.438C=
ENST00000569851.6:c.213C=	ENSP00000461009.1:p.Ile71=
NM_001114331.2:c.315C=	NP_001107803.1:p.Ile105=
NM_001287.5:c.387C=	NP_001278.1:p.Ile129=
XM_011522354.1:c.213C=	XP_011520656.1:p.Ile71=
NM_001287.6:c.387C= MANE Select	NP_001278.1:p.Ile129=
NM_001114331.3:c.315C=	NP_001107803.1:p.Ile105=