Canonical Allele Identifier: CA7809894

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447402G>A , CM000678.2:g.1447402G>A	GRCh38
NC_000016.9:g.1497403G>A , CM000678.1:g.1497403G>A	GRCh37
NC_000016.8:g.1437404G>A	NCBI36
NG_007567.1:g.32683C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.2240C>T MANE Select	NP_001278.1:p.Thr747Met
ENST00000382745.9:c.2240C>T MANE Select	ENSP00000372193.4:p.Thr747Met
NM_001114331.2:c.2168C>T	NP_001107803.1:p.Thr723Met
NM_001114331.3:c.2168C>T	NP_001107803.1:p.Thr723Met
NM_001287.5:c.2240C>T	NP_001278.1:p.Thr747Met
ENST00000262318.12:c.2168C>T	ENSP00000262318.8:p.Thr723Met
ENST00000382745.8:c.2240C>T	ENSP00000372193.4:p.Thr747Met
ENST00000448525.5:c.2168C>T	ENSP00000410907.1:p.Thr723Met
ENST00000563642.6:n.2309C>T
ENST00000565092.6:n.1275C>T
ENST00000567836.2:n.481C>T
ENST00000699947.1:c.2240C>T	ENSP00000514703.1:p.Thr747Met
ENST00000699948.1:c.*553C>T	ENSP00000514704.1:n.*553C>T
XM_011522354.1:c.2066C>T	XP_011520656.1:p.Thr689Met