Canonical Allele Identifier: CA2201679014

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460864T= , CM000678.2:g.1460864T=	GRCh38
NC_000016.9:g.1510865T= , CM000678.1:g.1510865T=	GRCh37
NC_000016.8:g.1450866T=	NCBI36
NG_007567.1:g.19221A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.436A=	ENSP00000514703.1:p.Ile146=
ENST00000699948.1:c.436A=	ENSP00000514704.1:p.Ile146=
ENST00000699950.1:n.388A=
ENST00000382745.9:c.436A= MANE Select	ENSP00000372193.4:p.Ile146=
ENST00000262318.12:c.364A=	ENSP00000262318.8:p.Ile122=
ENST00000382745.8:c.436A=	ENSP00000372193.4:p.Ile146=
ENST00000448525.5:c.364A=	ENSP00000410907.1:p.Ile122=
ENST00000561665.5:n.466A=
ENST00000564568.1:c.331A=	ENSP00000454845.1:p.Ile111=
ENST00000567139.1:n.487A=
ENST00000569851.6:c.262A=	ENSP00000461009.1:p.Ile88=
NM_001114331.2:c.364A=	NP_001107803.1:p.Ile122=
NM_001287.5:c.436A=	NP_001278.1:p.Ile146=
XM_011522354.1:c.262A=	XP_011520656.1:p.Ile88=
NM_001287.6:c.436A= MANE Select	NP_001278.1:p.Ile146=
NM_001114331.3:c.364A=	NP_001107803.1:p.Ile122=