Canonical Allele Identifier: CA595950
Gene: CLCN6 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs17376328

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11816605G>A , CM000663.2:g.11816605G>A GRCh38
NC_000001.10:g.11876662G>A , CM000663.1:g.11876662G>A GRCh37
NC_000001.9:g.11799249G>A NCBI36
NG_008766.1:g.15456G>A

Transcript Alleles

HGVS Amino-acid change
NM_001256959.1:c.148-10G>A VV NP_001243888.1:p.=
NM_001286.3:c.214-10G>A VV NP_001277.1:p.=
NR_046428.1:n.381-10G>A
NM_001286.4:c.214-10G>A VV NP_001277.1:p.=
ENST00000312413.10:c.148-10G>A ENSP00000308367.7:p.=
ENST00000346436.10:c.214-10G>A ENSP00000234488.9:p.=
ENST00000376490.7:n.214-10G>A
ENST00000376491.7:n.214-10G>A
ENST00000376492.3:n.214-10G>A
ENST00000376496.4:c.214-10G>A ENSP00000365679.3:p.=
ENST00000376497.7:c.214-10G>A ENSP00000365680.3:p.=