Canonical Allele Identifier: CA416096850

Gene: CLCN6

Linked Data

• dbSNP Id: rs1396755957
• gnomAD v2: 1-11876677-T-C
• gnomAD v4: 1-11816620-T-C
• MyVariant Identifiers: chr1:g.11876677T>C (hg19) ; chr1:g.11816620T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816620T>C , CM000663.2:g.11816620T>C	GRCh38
NC_000001.10:g.11876677T>C , CM000663.1:g.11876677T>C	GRCh37
NC_000001.9:g.11799264T>C	NCBI36
NG_008766.1:g.15471T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.219T>C MANE Select	ENSP00000234488.9:p.Gly73=
ENST00000400892.3:c.219T>C	ENSP00000496938.1:p.Gly73=
ENST00000312413.10:c.153T>C	ENSP00000308367.7:p.Gly51=
ENST00000346436.10:c.219T>C	ENSP00000234488.9:p.Gly73=
ENST00000376490.7:n.219T>C
ENST00000376491.7:n.219T>C
ENST00000376492.3:n.219T>C
ENST00000376496.4:c.219T>C	ENSP00000365679.3:p.Gly73=
ENST00000376497.7:c.219T>C	ENSP00000365680.3:p.Gly73=
NM_001256959.1:c.153T>C	NP_001243888.1:p.Gly51=
NM_001286.3:c.219T>C	NP_001277.1:p.Gly73=
NR_046428.1:n.386T>C
NM_001286.4:c.219T>C	NP_001277.1:p.Gly73=
NM_001256959.2:c.153T>C	NP_001243888.2:p.Gly51=
NM_001286.5:c.219T>C MANE Select	NP_001277.2:p.Gly73=
NR_046428.2:n.291T>C