Canonical Allele Identifier: CA416096856

Gene: CLCN6

Linked Data

• dbSNP Id: rs1294959136
• gnomAD v3: 1-11816621-C-A
• gnomAD v4: 1-11816621-C-A
• MyVariant Identifiers: chr1:g.11876678C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816621C>A , CM000663.2:g.11816621C>A	GRCh38
NC_000001.10:g.11876678C>A , CM000663.1:g.11876678C>A	GRCh37
NC_000001.9:g.11799265C>A	NCBI36
NG_008766.1:g.15472C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.220C>A MANE Select	ENSP00000234488.9:p.Arg74=
ENST00000400892.3:c.220C>A	ENSP00000496938.1:p.Arg74=
ENST00000312413.10:c.154C>A	ENSP00000308367.7:p.Arg52=
ENST00000346436.10:c.220C>A	ENSP00000234488.9:p.Arg74=
ENST00000376490.7:n.220C>A
ENST00000376491.7:n.220C>A
ENST00000376492.3:n.220C>A
ENST00000376496.4:c.220C>A	ENSP00000365679.3:p.Arg74=
ENST00000376497.7:c.220C>A	ENSP00000365680.3:p.Arg74=
NM_001256959.1:c.154C>A	NP_001243888.1:p.Arg52=
NM_001286.3:c.220C>A	NP_001277.1:p.Arg74=
NR_046428.1:n.387C>A
NM_001286.4:c.220C>A	NP_001277.1:p.Arg74=
NM_001256959.2:c.154C>A	NP_001243888.2:p.Arg52=
NM_001286.5:c.220C>A MANE Select	NP_001277.2:p.Arg74=
NR_046428.2:n.292C>A