Canonical Allele Identifier: CA394190459

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1456191G>A , CM000678.2:g.1456191G>A	GRCh38
NC_000016.9:g.1506192G>A , CM000678.1:g.1506192G>A	GRCh37
NC_000016.8:g.1446193G>A	NCBI36
NG_007567.1:g.23894C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.838C>T MANE Select	NP_001278.1:p.Arg280Cys
ENST00000382745.9:c.838C>T MANE Select	ENSP00000372193.4:p.Arg280Cys
NM_001114331.2:c.766C>T	NP_001107803.1:p.Arg256Cys
NM_001114331.3:c.766C>T	NP_001107803.1:p.Arg256Cys
NM_001287.5:c.838C>T	NP_001278.1:p.Arg280Cys
ENST00000262318.12:c.766C>T	ENSP00000262318.8:p.Arg256Cys
ENST00000382745.8:c.838C>T	ENSP00000372193.4:p.Arg280Cys
ENST00000448525.5:c.766C>T	ENSP00000410907.1:p.Arg256Cys
ENST00000563822.1:n.469C>T
ENST00000699947.1:c.838C>T	ENSP00000514703.1:p.Arg280Cys
ENST00000699948.1:c.838C>T	ENSP00000514704.1:p.Arg280Cys
ENST00000699950.1:n.790C>T
XM_011522354.1:c.664C>T	XP_011520656.1:p.Arg222Cys