Canonical Allele Identifier: CA2201679023

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460870T= , CM000678.2:g.1460870T=	GRCh38
NC_000016.9:g.1510871T= , CM000678.1:g.1510871T=	GRCh37
NC_000016.8:g.1450872T=	NCBI36
NG_007567.1:g.19215A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.430A=	ENSP00000514703.1:p.Ile144=
ENST00000699948.1:c.430A=	ENSP00000514704.1:p.Ile144=
ENST00000699950.1:n.382A=
ENST00000382745.9:c.430A= MANE Select	ENSP00000372193.4:p.Ile144=
ENST00000262318.12:c.358A=	ENSP00000262318.8:p.Ile120=
ENST00000382745.8:c.430A=	ENSP00000372193.4:p.Ile144=
ENST00000448525.5:c.358A=	ENSP00000410907.1:p.Ile120=
ENST00000561665.5:n.460A=
ENST00000564568.1:c.325A=	ENSP00000454845.1:p.Ile109=
ENST00000567139.1:n.481A=
ENST00000569851.6:c.256A=	ENSP00000461009.1:p.Ile86=
NM_001114331.2:c.358A=	NP_001107803.1:p.Ile120=
NM_001287.5:c.430A=	NP_001278.1:p.Ile144=
XM_011522354.1:c.256A=	XP_011520656.1:p.Ile86=
NM_001287.6:c.430A= MANE Select	NP_001278.1:p.Ile144=
NM_001114331.3:c.358A=	NP_001107803.1:p.Ile120=