Canonical Allele Identifier: CA2665931

Gene: CLRN1

Linked Data

• ClinVar Variation Id: 343803
• ClinVar RCV Id: RCV000407622
• dbSNP Id: rs778645950
• ExAC: 3:150645298 C / T
• gnomAD v2: 3-150645298-C-T
• gnomAD v3: 3-150927511-C-T
• gnomAD v4: 3-150927511-C-T
• MyVariant Identifiers: chr3:g.150645298C>T (hg19) ; chr3:g.150927511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150927511C>T , CM000665.2:g.150927511C>T	GRCh38
NC_000003.11:g.150645298C>T , CM000665.1:g.150645298C>T	GRCh37
NC_000003.10:g.152127988C>T	NCBI36
NG_009168.1:g.50489G>A , LRG_700:g.50489G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327047.6:c.*425G>A MANE Select	ENSP00000322280.1:n.*425G>A
ENST00000295911.6:c.342+554G>A	ENSP00000295911.2:n.342+554G>A
ENST00000327047.5:c.*425G>A	ENSP00000322280.1:n.*425G>A
ENST00000562308.5:c.104+14071G>A
ENST00000565169.1:c.162+14071G>A
ENST00000569170.5:c.162+14071G>A
NM_001195794.1:c.*425G>A , LRG_700t1:c.*425G>A	NP_001182723.1:n.*425G>A
NM_001256819.1:c.*738G>A	NP_001243748.1:n.*738G>A
NM_052995.2:c.342+554G>A , LRG_700t2:c.342+554G>A	NP_443721.1:n.342+554G>A
NM_174878.2:c.*425G>A	NP_777367.1:n.*425G>A
NR_046380.2:n.1605G>A
XR_924167.1:n.1436G>A
NM_001256819.2:c.*738G>A	NP_001243748.1:n.*738G>A
NM_174878.3:c.*425G>A MANE Select	NP_777367.1:n.*425G>A
NR_046380.3:n.1333G>A