Canonical Allele Identifier: CA394186346

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1448723A>C , CM000678.2:g.1448723A>C	GRCh38
NC_000016.9:g.1498724A>C , CM000678.1:g.1498724A>C	GRCh37
NC_000016.8:g.1438725A>C	NCBI36
NG_007567.1:g.31362T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.1841T>G MANE Select	NP_001278.1:p.Leu614Arg
ENST00000382745.9:c.1841T>G MANE Select	ENSP00000372193.4:p.Leu614Arg
NM_001114331.2:c.1769T>G	NP_001107803.1:p.Leu590Arg
NM_001114331.3:c.1769T>G	NP_001107803.1:p.Leu590Arg
NM_001287.5:c.1841T>G	NP_001278.1:p.Leu614Arg
ENST00000262318.12:c.1769T>G	ENSP00000262318.8:p.Leu590Arg
ENST00000382745.8:c.1841T>G	ENSP00000372193.4:p.Leu614Arg
ENST00000448525.5:c.1769T>G	ENSP00000410907.1:p.Leu590Arg
ENST00000563642.6:n.1910T>G
ENST00000565092.6:n.876T>G
ENST00000567789.1:n.342T>G
ENST00000699947.1:c.1841T>G	ENSP00000514703.1:p.Leu614Arg
ENST00000699948.1:c.*154T>G	ENSP00000514704.1:n.*154T>G
XM_011522354.1:c.1667T>G	XP_011520656.1:p.Leu556Arg