Canonical Allele Identifier: CA998620999

Gene: CLCN6

Linked Data

• ClinVar Variation Id: 1942354
• ClinVar RCV Id: RCV002646766
• dbSNP Id: rs1644675466
• gnomAD v3: 1-11816607-G-A
• gnomAD v4: 1-11816607-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816607G>A , CM000663.2:g.11816607G>A	GRCh38
NC_000001.10:g.11876664G>A , CM000663.1:g.11876664G>A	GRCh37
NC_000001.9:g.11799251G>A	NCBI36
NG_008766.1:g.15458G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.214-8G>A MANE Select	ENSP00000234488.9:n.214-8G>A
ENST00000400892.3:c.214-8G>A	ENSP00000496938.1:n.214-8G>A
ENST00000312413.10:c.148-8G>A	ENSP00000308367.7:n.148-8G>A
ENST00000346436.10:c.214-8G>A	ENSP00000234488.9:n.214-8G>A
ENST00000376490.7:n.214-8G>A
ENST00000376491.7:n.214-8G>A
ENST00000376492.3:n.214-8G>A
ENST00000376496.4:c.214-8G>A	ENSP00000365679.3:n.214-8G>A
ENST00000376497.7:c.214-8G>A	ENSP00000365680.3:n.214-8G>A
NM_001256959.1:c.148-8G>A	NP_001243888.1:n.148-8G>A
NM_001286.3:c.214-8G>A	NP_001277.1:n.214-8G>A
NR_046428.1:n.381-8G>A
NM_001286.4:c.214-8G>A	NP_001277.1:n.214-8G>A
NM_001256959.2:c.148-8G>A	NP_001243888.2:n.148-8G>A
NM_001286.5:c.214-8G>A MANE Select	NP_001277.2:n.214-8G>A
NR_046428.2:n.286-8G>A