Canonical Allele Identifier: CA142688

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 48146
• ClinVar RCV Id: RCV000041436 ; RCV000844624 ; RCV001071445 ; RCV001582535 ; RCV002243688 ; RCV003466890
• dbSNP Id: rs374963432
• ExAC: 3:150659434 G / T
• gnomAD v2: 3-150659434-G-T
• gnomAD v3: 3-150941647-G-T
• gnomAD v4: 3-150941647-G-T
• MyVariant Identifiers: chr3:g.150659434G>T (hg19) ; chr3:g.150941647G>T (hg38)
• PubMed: PMID:17407589 ; PMID:19753315 ; PMID:23304067

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941647G>T , CM000665.2:g.150941647G>T	GRCh38
NC_000003.11:g.150659434G>T , CM000665.1:g.150659434G>T	GRCh37
NC_000003.10:g.152142124G>T	NCBI36
NG_009168.1:g.36353C>A , LRG_700:g.36353C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.368C>A MANE Select	ENSP00000322280.1:p.Ala123Asp
ENST00000468836.2:c.516C>A	ENSP00000419892.2:p.Cys172Ter
ENST00000644099.1:c.360C>A	ENSP00000494762.1:n.360C>A
ENST00000295911.6:c.140C>A	ENSP00000295911.2:p.Ala47Asp
ENST00000327047.5:c.368C>A	ENSP00000322280.1:p.Ala123Asp
ENST00000328863.8:c.368C>A	ENSP00000329158.4:p.Ala123Asp
ENST00000468836.1:c.140C>A	ENSP00000419892.1:p.Ala47Asp
ENST00000472224.1:n.374C>A
ENST00000485607.1:c.32C>A	ENSP00000419244.1:p.Ala11Asp
ENST00000562308.5:c.39C>A
ENST00000565169.1:c.97C>A
ENST00000569170.5:c.97C>A
NM_001195794.1:c.368C>A , LRG_700t1:c.368C>A	NP_001182723.1:p.Ala123Asp
NM_001256819.1:c.540C>A	NP_001243748.1:p.Cys180Ter
NM_052995.2:c.140C>A , LRG_700t2:c.140C>A	NP_443721.1:p.Ala47Asp
NM_174878.2:c.368C>A	NP_777367.1:p.Ala123Asp
NR_046380.2:n.810C>A
XR_924167.1:n.680C>A
NM_001256819.2:c.540C>A	NP_001243748.1:p.Cys180Ter
NM_174878.3:c.368C>A MANE Select	NP_777367.1:p.Ala123Asp
NR_046380.3:n.538C>A