Canonical Allele Identifier: CA369641573

Gene: CLCN1

Linked Data

• dbSNP Id: rs202179484
• gnomAD v2: 7-143027906-G-A
• gnomAD v4: 7-143330813-G-A
• MyVariant Identifiers: chr7:g.143027906G>A (hg19) ; chr7:g.143330813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330813G>A , CM000669.2:g.143330813G>A	GRCh38
NC_000007.13:g.143027906G>A , CM000669.1:g.143027906G>A	GRCh37
NC_000007.12:g.142738028G>A	NCBI36
NG_009815.1:g.19688G>A
NG_009815.2:g.19688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.895G>A	ENSP00000498052.2:p.Val299Ile
ENST00000343257.7:c.895G>A MANE Select	ENSP00000339867.2:p.Val299Ile
ENST00000432192.6:c.719G>A
ENST00000455478.6:c.483G>A	ENSP00000400027.2:n.483G>A
ENST00000650516.1:c.895G>A	ENSP00000498052.1:p.Val299Ile
ENST00000343257.6:c.895G>A	ENSP00000339867.2:p.Val299Ile
ENST00000432192.5:c.409G>A
ENST00000455478.5:c.487G>A
ENST00000495612.1:n.196G>A
NM_000083.2:c.895G>A	NP_000074.2:p.Val299Ile
NR_046453.1:n.985G>A
XM_011515781.1:c.895G>A	XP_011514083.1:p.Val299Ile
XM_017011739.1:c.445G>A	XP_016867228.1:p.Val149Ile
XM_017011740.1:c.445G>A	XP_016867229.1:p.Val149Ile
NM_000083.3:c.895G>A MANE Select	NP_000074.3:p.Val299Ile
NR_046453.2:n.1000G>A