Canonical Allele Identifier: CA258030

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17546
• ClinVar RCV Id: RCV000019100 ; RCV000020109 ; RCV001049292
• dbSNP Id: rs80356699
• gnomAD v4: 7-143320744-A-G
• MyVariant Identifiers: chr7:g.143017837A>G (hg19) ; chr7:g.143320744A>G (hg38)
• PubMed: PMID:12661046 ; PMID:20301529

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143320744A>G , CM000669.2:g.143320744A>G	GRCh38
NC_000007.13:g.143017837A>G , CM000669.1:g.143017837A>G	GRCh37
NC_000007.12:g.142727959A>G	NCBI36
NG_009815.1:g.9619A>G
NG_009815.2:g.9619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.382A>G	ENSP00000498052.2:p.Met128Val
ENST00000343257.7:c.382A>G MANE Select	ENSP00000339867.2:p.Met128Val
ENST00000432192.6:c.150A>G
ENST00000650516.1:c.382A>G	ENSP00000498052.1:p.Met128Val
ENST00000343257.6:c.382A>G	ENSP00000339867.2:p.Met128Val
NM_000083.2:c.382A>G	NP_000074.2:p.Met128Val
NR_046453.1:n.469A>G
XM_011515781.1:c.382A>G	XP_011514083.1:p.Met128Val
XM_017011739.1:c.89A>G	XP_016867228.1:p.Asp30Gly
XM_017011740.1:c.89A>G	XP_016867229.1:p.Asp30Gly
NM_000083.3:c.382A>G MANE Select	NP_000074.3:p.Met128Val
NR_046453.2:n.484A>G