Canonical Allele Identifier: CA4537173

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 252463
• ClinVar RCV Id: RCV000239241 ; RCV000404319 ; RCV000513813 ; RCV000660618 ; RCV001086594
• dbSNP Id: rs118066140
• ExAC: 7:143027910 G / A
• gnomAD v2: 7-143027910-G-A
• gnomAD v3: 7-143330817-G-A
• gnomAD v4: 7-143330817-G-A
• COSMIC: COSM3635183
• MyVariant Identifiers: chr7:g.143027910G>A (hg19) ; chr7:g.143330817G>A (hg38)
• PubMed: PMID:8112288

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330817G>A , CM000669.2:g.143330817G>A	GRCh38
NC_000007.13:g.143027910G>A , CM000669.1:g.143027910G>A	GRCh37
NC_000007.12:g.142738032G>A	NCBI36
NG_009815.1:g.19692G>A
NG_009815.2:g.19692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.899G>A	ENSP00000498052.2:p.Arg300Gln
ENST00000343257.7:c.899G>A MANE Select	ENSP00000339867.2:p.Arg300Gln
ENST00000432192.6:c.723G>A
ENST00000455478.6:c.487G>A	ENSP00000400027.2:n.487G>A
ENST00000650516.1:c.899G>A	ENSP00000498052.1:p.Arg300Gln
ENST00000343257.6:c.899G>A	ENSP00000339867.2:p.Arg300Gln
ENST00000432192.5:c.413G>A
ENST00000455478.5:c.491G>A
ENST00000495612.1:n.200G>A
NM_000083.2:c.899G>A	NP_000074.2:p.Arg300Gln
NR_046453.1:n.989G>A
XM_011515781.1:c.899G>A	XP_011514083.1:p.Arg300Gln
XM_017011739.1:c.449G>A	XP_016867228.1:p.Arg150Gln
XM_017011740.1:c.449G>A	XP_016867229.1:p.Arg150Gln
NM_000083.3:c.899G>A MANE Select	NP_000074.3:p.Arg300Gln
NR_046453.2:n.1004G>A