Canonical Allele Identifier: CA369683333

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1381093
• ClinVar RCV Id: RCV001886549
• dbSNP Id: rs2116837535
• MyVariant Identifiers: chr7:g.143018467G>A (hg19) ; chr7:g.143321374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321374G>A , CM000669.2:g.143321374G>A	GRCh38
NC_000007.13:g.143018467G>A , CM000669.1:g.143018467G>A	GRCh37
NC_000007.12:g.142728589G>A	NCBI36
NG_009815.1:g.10249G>A
NG_009815.2:g.10249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.443G>A	ENSP00000498052.2:p.Trp148Ter
ENST00000343257.7:c.443G>A MANE Select	ENSP00000339867.2:p.Trp148Ter
ENST00000432192.6:c.211G>A
ENST00000650516.1:c.443G>A	ENSP00000498052.1:p.Trp148Ter
ENST00000343257.6:c.443G>A	ENSP00000339867.2:p.Trp148Ter
NM_000083.2:c.443G>A	NP_000074.2:p.Trp148Ter
NR_046453.1:n.530G>A
XM_011515781.1:c.443G>A	XP_011514083.1:p.Trp148Ter
XM_017011739.1:c.150G>A	XP_016867228.1:p.Val50=
XM_017011740.1:c.150G>A	XP_016867229.1:p.Val50=
NM_000083.3:c.443G>A MANE Select	NP_000074.3:p.Trp148Ter
NR_046453.2:n.545G>A