Canonical Allele Identifier: CA2839295679

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460811G>T , CM000678.2:g.1460811G>T	GRCh38
NC_000016.9:g.1510812G>T , CM000678.1:g.1510812G>T	GRCh37
NC_000016.8:g.1450813G>T	NCBI36
NG_007567.1:g.19274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.484+5C>A	ENSP00000514703.1:n.484+5C>A
ENST00000699948.1:c.484+5C>A	ENSP00000514704.1:n.484+5C>A
ENST00000699950.1:n.436+5C>A
ENST00000382745.9:c.484+5C>A MANE Select	ENSP00000372193.4:n.484+5C>A
ENST00000262318.12:c.412+5C>A	ENSP00000262318.8:n.412+5C>A
ENST00000382745.8:c.484+5C>A	ENSP00000372193.4:n.484+5C>A
ENST00000448525.5:c.412+5C>A	ENSP00000410907.1:n.412+5C>A
ENST00000561665.5:n.519C>A
ENST00000567139.1:n.540C>A
ENST00000569851.6:c.310+5C>A	ENSP00000461009.1:n.310+5C>A
NM_001114331.2:c.412+5C>A	NP_001107803.1:n.412+5C>A
NM_001287.5:c.484+5C>A	NP_001278.1:n.484+5C>A
XM_011522354.1:c.310+5C>A	XP_011520656.1:n.310+5C>A
NM_001287.6:c.484+5C>A MANE Select	NP_001278.1:n.484+5C>A
NM_001114331.3:c.412+5C>A	NP_001107803.1:n.412+5C>A