Canonical Allele Identifier: CA2201668901

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1452856C= , CM000678.2:g.1452856C=	GRCh38
NC_000016.9:g.1502857C= , CM000678.1:g.1502857C=	GRCh37
NC_000016.8:g.1442858C=	NCBI36
NG_007567.1:g.27229G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.1252G= MANE Select	NP_001278.1:p.Val418=
ENST00000382745.9:c.1252G= MANE Select	ENSP00000372193.4:p.Val418=
NM_001114331.2:c.1180G=	NP_001107803.1:p.Val394=
NM_001114331.3:c.1180G=	NP_001107803.1:p.Val394=
NM_001287.5:c.1252G=	NP_001278.1:p.Val418=
ENST00000262318.12:c.1180G=	ENSP00000262318.8:p.Val394=
ENST00000382745.8:c.1252G=	ENSP00000372193.4:p.Val418=
ENST00000448525.5:c.1180G=	ENSP00000410907.1:p.Val394=
ENST00000699947.1:c.1252G=	ENSP00000514703.1:p.Val418=
ENST00000699948.1:c.1252G=	ENSP00000514704.1:p.Val418=
XM_011522354.1:c.1078G=	XP_011520656.1:p.Val360=