Canonical Allele Identifier: CA15068100

Gene: CLCN6

Linked Data

• dbSNP Id: rs3737964
• gnomAD v2: 1-11867044-T-C
• gnomAD v3: 1-11806987-T-C
• gnomAD v4: 1-11806987-T-C
• MyVariant Identifiers: chr1:g.11867044T>C (hg19) ; chr1:g.11806987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11806987T>C , CM000663.2:g.11806987T>C	GRCh38
NC_000001.10:g.11867044T>C , CM000663.1:g.11867044T>C	GRCh37
NC_000001.9:g.11789631T>C	NCBI36
NG_008766.1:g.5838T>C
NG_013351.1:g.4117A>G , LRG_726:g.4117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.88-144T>C MANE Select	ENSP00000234488.9:n.88-144T>C
ENST00000400892.3:c.88-144T>C	ENSP00000496938.1:n.88-144T>C
ENST00000312413.10:c.88-144T>C	ENSP00000308367.7:n.88-144T>C
ENST00000346436.10:c.88-144T>C	ENSP00000234488.9:n.88-144T>C
ENST00000376490.7:n.88-144T>C
ENST00000376491.7:n.88-144T>C
ENST00000376492.3:n.88-144T>C
ENST00000376496.4:c.88-144T>C	ENSP00000365679.3:n.88-144T>C
ENST00000376497.7:c.88-144T>C	ENSP00000365680.3:n.88-144T>C
NM_001256959.1:c.88-144T>C	NP_001243888.1:n.88-144T>C
NM_001286.3:c.88-144T>C	NP_001277.1:n.88-144T>C
NR_046428.1:n.255-144T>C
NM_001286.4:c.88-144T>C	NP_001277.1:n.88-144T>C
NM_001256959.2:c.88-144T>C	NP_001243888.2:n.88-144T>C
NM_001286.5:c.88-144T>C MANE Select	NP_001277.2:n.88-144T>C
NR_046428.2:n.160-144T>C