Canonical Allele Identifier: CA2575868110

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447571G>A , CM000678.2:g.1447571G>A	GRCh38
NC_000016.9:g.1497572G>A , CM000678.1:g.1497572G>A	GRCh37
NC_000016.8:g.1437573G>A	NCBI36
NG_007567.1:g.32514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2074-3C>T	ENSP00000514703.1:n.2074-3C>T
ENST00000699948.1:c.*387-3C>T	ENSP00000514704.1:n.*387-3C>T
ENST00000382745.9:c.2074-3C>T MANE Select	ENSP00000372193.4:n.2074-3C>T
ENST00000262318.12:c.2002-3C>T	ENSP00000262318.8:n.2002-3C>T
ENST00000382745.8:c.2074-3C>T	ENSP00000372193.4:n.2074-3C>T
ENST00000448525.5:c.2002-3C>T	ENSP00000410907.1:n.2002-3C>T
ENST00000563642.6:n.2143-3C>T
ENST00000565092.6:n.1109-3C>T
ENST00000567836.2:n.315-3C>T
NM_001114331.2:c.2002-3C>T	NP_001107803.1:n.2002-3C>T
NM_001287.5:c.2074-3C>T	NP_001278.1:n.2074-3C>T
XM_011522354.1:c.1900-3C>T	XP_011520656.1:n.1900-3C>T
NM_001287.6:c.2074-3C>T MANE Select	NP_001278.1:n.2074-3C>T
NM_001114331.3:c.2002-3C>T	NP_001107803.1:n.2002-3C>T