Canonical Allele Identifier: CA258012
Gene: CLCN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17532
dbSNP Id: rs80356700

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321841G>A , CM000669.2:g.143321841G>A GRCh38
NC_000007.13:g.143018934G>A , CM000669.1:g.143018934G>A GRCh37
NC_000007.12:g.142729056G>A NCBI36
NG_009815.1:g.10716G>A

Transcript Alleles

HGVS Amino-acid change
NM_000083.2:c.689G>A VV NP_000074.2:p.Gly230Glu
NR_046453.1:n.776G>A
XM_011515781.1:c.689G>A XP_011514083.1:p.Gly230Glu
XM_017011739.1:c.396G>A XP_016867228.1:p.Gly132=
XM_017011740.1:c.396G>A XP_016867229.1:p.Gly132=
ENST00000343257.6:c.689G>A ENSP00000339867.2:p.Gly230Glu
ENST00000432192.5:n.147G>A
ENST00000455478.5:n.147G>A
ENST00000495612.1:n.147G>A