Canonical Allele Identifier: CA338425684

Gene: CLCN6

Linked Data

• gnomAD v4: 1-11816621-C-T
• MyVariant Identifiers: chr1:g.11876678C>T (hg19) ; chr1:g.11816621C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.220C>T MANE Select	ENSP00000234488.9:p.Arg74Ter
ENST00000400892.3:c.220C>T	ENSP00000496938.1:p.Arg74Ter
ENST00000312413.10:c.154C>T	ENSP00000308367.7:p.Arg52Ter
ENST00000346436.10:c.220C>T	ENSP00000234488.9:p.Arg74Ter
ENST00000376490.7:n.220C>T
ENST00000376491.7:n.220C>T
ENST00000376492.3:n.220C>T
ENST00000376496.4:c.220C>T	ENSP00000365679.3:p.Arg74Ter
ENST00000376497.7:c.220C>T	ENSP00000365680.3:p.Arg74Ter
NM_001256959.1:c.154C>T	NP_001243888.1:p.Arg52Ter
NM_001286.3:c.220C>T	NP_001277.1:p.Arg74Ter
NR_046428.1:n.387C>T
NM_001286.4:c.220C>T	NP_001277.1:p.Arg74Ter
NM_001256959.2:c.154C>T	NP_001243888.2:p.Arg52Ter
NM_001286.5:c.220C>T MANE Select	NP_001277.2:p.Arg74Ter
NR_046428.2:n.292C>T