Canonical Allele Identifier: CA258010

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 17531
• ClinVar RCV Id: RCV000019083 ; RCV000346725 ; RCV000184008 ; RCV000638232 ; RCV002291268 ; RCV001548747
• dbSNP Id: rs121912799
• ExAC: 7:143029583 T / G
• gnomAD v2: 7-143029583-T-G
• gnomAD v3: 7-143332490-T-G
• gnomAD v4: 7-143332490-T-G
• MyVariant Identifiers: chr7:g.143029583T>G (hg19) ; chr7:g.143332490T>G (hg38)
• PubMed: PMID:1379744 ; PMID:7981750 ; PMID:8301644 ; PMID:8533761 ; PMID:9040760 ; PMID:10690989 ; PMID:11840191 ; PMID:12390967 ; PMID:17932099 ; PMID:17990293 ; PMID:18807109 ; PMID:21204798

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332490T>G , CM000669.2:g.143332490T>G	GRCh38
NC_000007.13:g.143029583T>G , CM000669.1:g.143029583T>G	GRCh37
NC_000007.12:g.142739705T>G	NCBI36
NG_009815.1:g.21365T>G
NG_009815.2:g.21365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1238T>G	ENSP00000498052.2:p.Phe413Cys
ENST00000343257.7:c.1238T>G MANE Select	ENSP00000339867.2:p.Phe413Cys
ENST00000432192.6:c.1062T>G
ENST00000343257.6:c.1238T>G	ENSP00000339867.2:p.Phe413Cys
NM_000083.2:c.1238T>G	NP_000074.2:p.Phe413Cys
NR_046453.1:n.1328T>G
XM_011515781.1:c.1238T>G	XP_011514083.1:p.Phe413Cys
XM_011515782.1:c.-3-234T>G	XP_011514084.1:n.-3-234T>G
XM_011515782.2:c.-3-234T>G	XP_011514084.1:n.-3-234T>G
XM_017011739.1:c.788T>G	XP_016867228.1:p.Phe263Cys
XM_017011740.1:c.788T>G	XP_016867229.1:p.Phe263Cys
NM_000083.3:c.1238T>G MANE Select	NP_000074.3:p.Phe413Cys
NR_046453.2:n.1343T>G