Canonical Allele Identifier: CA394186933

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449082G>A , CM000678.2:g.1449082G>A	GRCh38
NC_000016.9:g.1499083G>A , CM000678.1:g.1499083G>A	GRCh37
NC_000016.8:g.1439084G>A	NCBI36
NG_007567.1:g.31003C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.1681C>T MANE Select	NP_001278.1:p.Arg561Trp
ENST00000382745.9:c.1681C>T MANE Select	ENSP00000372193.4:p.Arg561Trp
NM_001114331.2:c.1609C>T	NP_001107803.1:p.Arg537Trp
NM_001114331.3:c.1609C>T	NP_001107803.1:p.Arg537Trp
NM_001287.5:c.1681C>T	NP_001278.1:p.Arg561Trp
ENST00000262318.12:c.1609C>T	ENSP00000262318.8:p.Arg537Trp
ENST00000382745.8:c.1681C>T	ENSP00000372193.4:p.Arg561Trp
ENST00000448525.5:c.1609C>T	ENSP00000410907.1:p.Arg537Trp
ENST00000563642.6:n.1750C>T
ENST00000565092.6:n.716C>T
ENST00000567789.1:n.182C>T
ENST00000699947.1:c.1681C>T	ENSP00000514703.1:p.Arg561Trp
ENST00000699948.1:c.1635C>T	ENSP00000514704.1:p.Cys545=
XM_011522354.1:c.1507C>T	XP_011520656.1:p.Arg503Trp