Canonical Allele Identifier: CA2666269
Gene: CLRN1 HGNC NCBI
CLRN1-AS1 HGNC NCBI

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)
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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)
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