Canonical Allele Identifier: CA2666269

Gene: CLRN1 CLRN1-AS1

Linked Data

• ClinVar Variation Id: 343821
• ClinVar RCV Id: RCV000310548 ; RCV001577695
• dbSNP Id: rs55842922
• ExAC: 3:150690784 C / T
• gnomAD v2: 3-150690784-C-T
• gnomAD v3: 3-150972997-C-T
• gnomAD v4: 3-150972997-C-T
• MyVariant Identifiers: chr3:g.150690784C>T (hg19) ; chr3:g.150972997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150972997C>T , CM000665.2:g.150972997C>T	GRCh38
NC_000003.11:g.150690784C>T , CM000665.1:g.150690784C>T	GRCh37
NC_000003.10:g.152173474C>T	NCBI36
NG_009168.1:g.5003G>A , LRG_700:g.5003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.5:c.-289G>A (CLRN1)	ENSP00000322280.1:n.-289G>A
NM_001195794.1:c.-289G>A , LRG_700t1:c.-289G>A (CLRN1)	NP_001182723.1:n.-289G>A
NM_001256819.1:c.-289G>A (CLRN1)	NP_001243748.1:n.-289G>A
NM_174878.2:c.-289G>A (CLRN1)	NP_777367.1:n.-289G>A
NR_024066.1:n.320C>T (CLRN1-AS1)
NR_046380.2:n.3G>A (CLRN1)
XR_924167.1:n.24G>A (CLRN1)
NR_024066.2:n.320C>T (CLRN1-AS1)