Canonical Allele Identifier: CA394187499

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1450552C>G , CM000678.2:g.1450552C>G	GRCh38
NC_000016.9:g.1500553C>G , CM000678.1:g.1500553C>G	GRCh37
NC_000016.8:g.1440554C>G	NCBI36
NG_007567.1:g.29533G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.1562G>C MANE Select	NP_001278.1:p.Gly521Ala
ENST00000382745.9:c.1562G>C MANE Select	ENSP00000372193.4:p.Gly521Ala
NM_001114331.2:c.1490G>C	NP_001107803.1:p.Gly497Ala
NM_001114331.3:c.1490G>C	NP_001107803.1:p.Gly497Ala
NM_001287.5:c.1562G>C	NP_001278.1:p.Gly521Ala
ENST00000262318.12:c.1490G>C	ENSP00000262318.8:p.Gly497Ala
ENST00000382745.8:c.1562G>C	ENSP00000372193.4:p.Gly521Ala
ENST00000448525.5:c.1490G>C	ENSP00000410907.1:p.Gly497Ala
ENST00000563642.6:n.462G>C
ENST00000699947.1:c.1562G>C	ENSP00000514703.1:p.Gly521Ala
ENST00000699948.1:c.1568G>C	ENSP00000514704.1:p.Gly523Ala
XM_011522354.1:c.1388G>C	XP_011520656.1:p.Gly463Ala