Canonical Allele Identifier: CA4537163

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 280100
• ClinVar RCV Id: RCV000305463 ; RCV000560216 ; RCV001753743 ; RCV003319192 ; RCV004535246
• dbSNP Id: rs150885084
• ExAC: 7:143027865 G / A
• gnomAD v2: 7-143027865-G-A
• gnomAD v3: 7-143330772-G-A
• gnomAD v4: 7-143330772-G-A
• COSMIC: COSM3635182
• MyVariant Identifiers: chr7:g.143027865G>A (hg19) ; chr7:g.143330772G>A (hg38)
• PubMed: PMID:9736777 ; PMID:12390967 ; PMID:15786415 ; PMID:17932099 ; PMID:18337730 ; PMID:22995991 ; PMID:24037712

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330772G>A , CM000669.2:g.143330772G>A	GRCh38
NC_000007.13:g.143027865G>A , CM000669.1:g.143027865G>A	GRCh37
NC_000007.12:g.142737987G>A	NCBI36
NG_009815.1:g.19647G>A
NG_009815.2:g.19647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.854G>A	ENSP00000498052.2:p.Gly285Glu
ENST00000343257.7:c.854G>A MANE Select	ENSP00000339867.2:p.Gly285Glu
ENST00000432192.6:c.678G>A
ENST00000455478.6:c.442G>A	ENSP00000400027.2:n.442G>A
ENST00000650516.1:c.854G>A	ENSP00000498052.1:p.Gly285Glu
ENST00000343257.6:c.854G>A	ENSP00000339867.2:p.Gly285Glu
ENST00000432192.5:c.368G>A
ENST00000455478.5:c.446G>A
ENST00000495612.1:n.155G>A
NM_000083.2:c.854G>A	NP_000074.2:p.Gly285Glu
NR_046453.1:n.944G>A
XM_011515781.1:c.854G>A	XP_011514083.1:p.Gly285Glu
XM_017011739.1:c.404G>A	XP_016867228.1:p.Gly135Glu
XM_017011740.1:c.404G>A	XP_016867229.1:p.Gly135Glu
NM_000083.3:c.854G>A MANE Select	NP_000074.3:p.Gly285Glu
NR_046453.2:n.959G>A