Canonical Allele Identifier: CA276630015

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1474836G>A , CM000678.2:g.1474836G>A	GRCh38
NC_000016.9:g.1524837G>A , CM000678.1:g.1524837G>A	GRCh37
NC_000016.8:g.1464838G>A	NCBI36
NG_007567.1:g.5249C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.139C>T MANE Select	NP_001278.1:p.Gln47Ter
ENST00000382745.9:c.139C>T MANE Select	ENSP00000372193.4:p.Gln47Ter
NM_001114331.2:c.139C>T	NP_001107803.1:p.Gln47Ter
NM_001114331.3:c.139C>T	NP_001107803.1:p.Gln47Ter
NM_001287.5:c.139C>T	NP_001278.1:p.Gln47Ter
ENST00000262318.12:c.139C>T	ENSP00000262318.8:p.Gln47Ter
ENST00000382745.8:c.139C>T	ENSP00000372193.4:p.Gln47Ter
ENST00000448525.5:c.139C>T	ENSP00000410907.1:p.Gln47Ter
ENST00000561665.5:n.241C>T
ENST00000566812.1:n.242C>T
ENST00000567139.1:n.190C>T
ENST00000699947.1:c.139C>T	ENSP00000514703.1:p.Gln47Ter
ENST00000699948.1:c.139C>T	ENSP00000514704.1:p.Gln47Ter
ENST00000699950.1:n.91C>T