Canonical Allele Identifier: CA458286389

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2923884
• ClinVar RCV Id: RCV003783442
• MyVariant Identifiers: chr7:g.143047479G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350386G>A , CM000669.2:g.143350386G>A	GRCh38
NC_000007.13:g.143047479G>A , CM000669.1:g.143047479G>A	GRCh37
NC_000007.12:g.142757601G>A	NCBI36
NG_009815.1:g.39261G>A
NG_009815.2:g.39261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2418G>A	ENSP00000498052.2:p.Glu806=
ENST00000343257.7:c.2418G>A MANE Select	ENSP00000339867.2:p.Glu806=
ENST00000432192.6:c.2242G>A
ENST00000343257.6:c.2418G>A	ENSP00000339867.2:p.Glu806=
NM_000083.2:c.2418G>A	NP_000074.2:p.Glu806=
NR_046453.1:n.2358G>A
XM_011515781.1:c.2442G>A	XP_011514083.1:p.Glu814=
XM_011515782.1:c.1164G>A	XP_011514084.1:p.Glu388=
XM_011515782.2:c.1164G>A	XP_011514084.1:p.Glu388=
XM_017011739.1:c.1992G>A	XP_016867228.1:p.Glu664=
XM_017011740.1:c.1968G>A	XP_016867229.1:p.Glu656=
NM_000083.3:c.2418G>A MANE Select	NP_000074.3:p.Glu806=
NR_046453.2:n.2373G>A