Canonical Allele Identifier: CA595951

Gene: CLCN6

Linked Data

• ClinVar Variation Id: 2144864
• ClinVar RCV Id: RCV003071149
• dbSNP Id: rs762110634
• ExAC: 1:11876673 A / G
• gnomAD v2: 1-11876673-A-G
• gnomAD v3: 1-11816616-A-G
• gnomAD v4: 1-11816616-A-G
• MyVariant Identifiers: chr1:g.11876673A>G (hg19) ; chr1:g.11816616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816616A>G , CM000663.2:g.11816616A>G	GRCh38
NC_000001.10:g.11876673A>G , CM000663.1:g.11876673A>G	GRCh37
NC_000001.9:g.11799260A>G	NCBI36
NG_008766.1:g.15467A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.215A>G MANE Select	ENSP00000234488.9:p.Lys72Arg
ENST00000400892.3:c.215A>G	ENSP00000496938.1:p.Lys72Arg
ENST00000312413.10:c.149A>G	ENSP00000308367.7:p.Lys50Arg
ENST00000346436.10:c.215A>G	ENSP00000234488.9:p.Lys72Arg
ENST00000376490.7:n.215A>G
ENST00000376491.7:n.215A>G
ENST00000376492.3:n.215A>G
ENST00000376496.4:c.215A>G	ENSP00000365679.3:p.Lys72Arg
ENST00000376497.7:c.215A>G	ENSP00000365680.3:p.Lys72Arg
NM_001256959.1:c.149A>G	NP_001243888.1:p.Lys50Arg
NM_001286.3:c.215A>G	NP_001277.1:p.Lys72Arg
NR_046428.1:n.382A>G
NM_001286.4:c.215A>G	NP_001277.1:p.Lys72Arg
NM_001256959.2:c.149A>G	NP_001243888.2:p.Lys50Arg
NM_001286.5:c.215A>G MANE Select	NP_001277.2:p.Lys72Arg
NR_046428.2:n.287A>G