Canonical Allele Identifier: CA2201679026

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460872A= , CM000678.2:g.1460872A=	GRCh38
NC_000016.9:g.1510873A= , CM000678.1:g.1510873A=	GRCh37
NC_000016.8:g.1450874A=	NCBI36
NG_007567.1:g.19213T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.428T=	ENSP00000514703.1:p.Phe143=
ENST00000699948.1:c.428T=	ENSP00000514704.1:p.Phe143=
ENST00000699950.1:n.380T=
ENST00000382745.9:c.428T= MANE Select	ENSP00000372193.4:p.Phe143=
ENST00000262318.12:c.356T=	ENSP00000262318.8:p.Phe119=
ENST00000382745.8:c.428T=	ENSP00000372193.4:p.Phe143=
ENST00000448525.5:c.356T=	ENSP00000410907.1:p.Phe119=
ENST00000561665.5:n.458T=
ENST00000564568.1:c.323T=	ENSP00000454845.1:p.Phe108=
ENST00000567139.1:n.479T=
ENST00000569851.6:c.254T=	ENSP00000461009.1:p.Phe85=
NM_001114331.2:c.356T=	NP_001107803.1:p.Phe119=
NM_001287.5:c.428T=	NP_001278.1:p.Phe143=
XM_011522354.1:c.254T=	XP_011520656.1:p.Phe85=
NM_001287.6:c.428T= MANE Select	NP_001278.1:p.Phe143=
NM_001114331.3:c.356T=	NP_001107803.1:p.Phe119=