Canonical Allele Identifier: CA1139846709

Gene: CLCN6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11838976G= , CM000663.2:g.11838976G=	GRCh38
NC_000001.10:g.11899033G= , CM000663.1:g.11899033G=	GRCh37
NC_000001.9:g.11821620G=	NCBI36
NG_008766.1:g.37827G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346436.11:c.2529+316G= MANE Select	ENSP00000234488.9:n.2529+316G=
ENST00000400892.3:c.*1022+316G=	ENSP00000496938.1:n.*1022+316G=
ENST00000312413.10:c.2463+316G=	ENSP00000308367.7:n.2463+316G=
ENST00000346436.10:c.2529+316G=	ENSP00000234488.9:n.2529+316G=
ENST00000376496.4:c.2845G=	ENSP00000365679.3:p.Asp949=
NM_001256959.1:c.2463+316G=	NP_001243888.1:n.2463+316G=
NM_001286.3:c.2529+316G=	NP_001277.1:n.2529+316G=
NR_046428.1:n.2680+316G=
NM_001286.4:c.2529+316G=	NP_001277.1:n.2529+316G=
NM_001256959.2:c.2463+316G=	NP_001243888.2:n.2463+316G=
NM_001286.5:c.2529+316G= MANE Select	NP_001277.2:n.2529+316G=
NR_046428.2:n.2585+316G=