Canonical Allele Identifier: CA369684904

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2688788
• ClinVar RCV Id: RCV003490567
• gnomAD v4: 7-143321814-C-A
• MyVariant Identifiers: chr7:g.143018907C>A (hg19) ; chr7:g.143321814C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321814C>A , CM000669.2:g.143321814C>A	GRCh38
NC_000007.13:g.143018907C>A , CM000669.1:g.143018907C>A	GRCh37
NC_000007.12:g.142729029C>A	NCBI36
NG_009815.1:g.10689C>A
NG_009815.2:g.10689C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.662C>A	ENSP00000498052.2:p.Ala221Glu
ENST00000343257.7:c.662C>A MANE Select	ENSP00000339867.2:p.Ala221Glu
ENST00000432192.6:c.430C>A
ENST00000455478.6:c.116C>A	ENSP00000400027.2:p.Ala39Glu
ENST00000650516.1:c.662C>A	ENSP00000498052.1:p.Ala221Glu
ENST00000343257.6:c.662C>A	ENSP00000339867.2:p.Ala221Glu
ENST00000432192.5:c.120C>A
ENST00000455478.5:c.120C>A
ENST00000495612.1:n.120C>A
NM_000083.2:c.662C>A	NP_000074.2:p.Ala221Glu
NR_046453.1:n.749C>A
XM_011515781.1:c.662C>A	XP_011514083.1:p.Ala221Glu
XM_017011739.1:c.369C>A	XP_016867228.1:p.Cys123Ter
XM_017011740.1:c.369C>A	XP_016867229.1:p.Cys123Ter
NM_000083.3:c.662C>A MANE Select	NP_000074.3:p.Ala221Glu
NR_046453.2:n.764C>A