Canonical Allele Identifier: CA338425686

Gene: CLCN6

Linked Data

• MyVariant Identifiers: chr1:g.11876679G>C (hg19) ; chr1:g.11816622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816622G>C , CM000663.2:g.11816622G>C	GRCh38
NC_000001.10:g.11876679G>C , CM000663.1:g.11876679G>C	GRCh37
NC_000001.9:g.11799266G>C	NCBI36
NG_008766.1:g.15473G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.221G>C MANE Select	ENSP00000234488.9:p.Arg74Pro
ENST00000400892.3:c.221G>C	ENSP00000496938.1:p.Arg74Pro
ENST00000312413.10:c.155G>C	ENSP00000308367.7:p.Arg52Pro
ENST00000346436.10:c.221G>C	ENSP00000234488.9:p.Arg74Pro
ENST00000376490.7:n.221G>C
ENST00000376491.7:n.221G>C
ENST00000376492.3:n.221G>C
ENST00000376496.4:c.221G>C	ENSP00000365679.3:p.Arg74Pro
ENST00000376497.7:c.221G>C	ENSP00000365680.3:p.Arg74Pro
NM_001256959.1:c.155G>C	NP_001243888.1:p.Arg52Pro
NM_001286.3:c.221G>C	NP_001277.1:p.Arg74Pro
NR_046428.1:n.388G>C
NM_001286.4:c.221G>C	NP_001277.1:p.Arg74Pro
NM_001256959.2:c.155G>C	NP_001243888.2:p.Arg52Pro
NM_001286.5:c.221G>C MANE Select	NP_001277.2:p.Arg74Pro
NR_046428.2:n.293G>C