Canonical Allele Identifier: CA17987790

Gene: CLCN6

Linked Data

• dbSNP Id: rs966039012
• gnomAD v2: 1-11876575-C-T
• gnomAD v3: 1-11816518-C-T
• gnomAD v4: 1-11816518-C-T
• MyVariant Identifiers: chr1:g.11876575C>T (hg19) ; chr1:g.11816518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11816518C>T , CM000663.2:g.11816518C>T	GRCh38
NC_000001.10:g.11876575C>T , CM000663.1:g.11876575C>T	GRCh37
NC_000001.9:g.11799162C>T	NCBI36
NG_008766.1:g.15369C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346436.11:c.214-97C>T MANE Select	ENSP00000234488.9:n.214-97C>T
ENST00000400892.3:c.214-97C>T	ENSP00000496938.1:n.214-97C>T
ENST00000312413.10:c.148-97C>T	ENSP00000308367.7:n.148-97C>T
ENST00000346436.10:c.214-97C>T	ENSP00000234488.9:n.214-97C>T
ENST00000376490.7:n.214-97C>T
ENST00000376491.7:n.214-97C>T
ENST00000376492.3:n.214-97C>T
ENST00000376496.4:c.214-97C>T	ENSP00000365679.3:n.214-97C>T
ENST00000376497.7:c.214-97C>T	ENSP00000365680.3:n.214-97C>T
NM_001256959.1:c.148-97C>T	NP_001243888.1:n.148-97C>T
NM_001286.3:c.214-97C>T	NP_001277.1:n.214-97C>T
NR_046428.1:n.381-97C>T
NM_001286.4:c.214-97C>T	NP_001277.1:n.214-97C>T
NM_001256959.2:c.148-97C>T	NP_001243888.2:n.148-97C>T
NM_001286.5:c.214-97C>T MANE Select	NP_001277.2:n.214-97C>T
NR_046428.2:n.286-97C>T