Canonical Allele Identifier: CA369683602

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1512799
• ClinVar RCV Id: RCV002023212
• dbSNP Id: rs763587236
• gnomAD v2: 7-143018511-G-A
• gnomAD v4: 7-143321418-G-A
• MyVariant Identifiers: chr7:g.143018511G>A (hg19) ; chr7:g.143321418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321418G>A , CM000669.2:g.143321418G>A	GRCh38
NC_000007.13:g.143018511G>A , CM000669.1:g.143018511G>A	GRCh37
NC_000007.12:g.142728633G>A	NCBI36
NG_009815.1:g.10293G>A
NG_009815.2:g.10293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.487G>A	ENSP00000498052.2:p.Val163Ile
ENST00000343257.7:c.487G>A MANE Select	ENSP00000339867.2:p.Val163Ile
ENST00000432192.6:c.255G>A
ENST00000650516.1:c.487G>A	ENSP00000498052.1:p.Val163Ile
ENST00000343257.6:c.487G>A	ENSP00000339867.2:p.Val163Ile
NM_000083.2:c.487G>A	NP_000074.2:p.Val163Ile
NR_046453.1:n.574G>A
XM_011515781.1:c.487G>A	XP_011514083.1:p.Val163Ile
XM_017011739.1:c.194G>A	XP_016867228.1:p.Gly65Asp
XM_017011740.1:c.194G>A	XP_016867229.1:p.Gly65Asp
NM_000083.3:c.487G>A MANE Select	NP_000074.3:p.Val163Ile
NR_046453.2:n.589G>A