Canonical Allele Identifier: CA458541959

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2662806
• ClinVar RCV Id: RCV003441471 ; RCV003778474
• dbSNP Id: rs1389779829
• gnomAD v3: 7-143321373-T-TG
• gnomAD v4: 7-143321373-T-TG
• MyVariant Identifiers: chr7:g.143018466_143018467insG (hg19) ; chr7:g.143321373_143321374insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321375dup , CM000669.2:g.143321375dup	GRCh38
NC_000007.13:g.143018468dup , CM000669.1:g.143018468dup	GRCh37
NC_000007.12:g.142728590dup	NCBI36
NG_009815.1:g.10250dup
NG_009815.2:g.10250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.444dup	ENSP00000498052.2:p.Ser149ValfsTer?
ENST00000343257.7:c.444dup MANE Select	ENSP00000339867.2:p.Ser149ValfsTer?
ENST00000432192.6:c.212dup
ENST00000650516.1:c.444dup	ENSP00000498052.1:p.Ser149ValfsTer?
ENST00000343257.6:c.444dup	ENSP00000339867.2:p.Ser149ValfsTer?
NM_000083.2:c.444dup	NP_000074.2:p.Ser149ValfsTer?
NR_046453.1:n.531dup
XM_011515781.1:c.444dup	XP_011514083.1:p.Ser149ValfsTer?
XM_017011739.1:c.151dup	XP_016867228.1:p.Val51GlyfsTer22
XM_017011740.1:c.151dup	XP_016867229.1:p.Val51GlyfsTer22
NM_000083.3:c.444dup MANE Select	NP_000074.3:p.Ser149ValfsTer?
NR_046453.2:n.546dup