Canonical Allele Identifier: CA142703
Gene: CLRN1 HGNC NCBI
CLRN1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48149
ClinVar RCV Id: RCV000041439 RCV000726773 RCV001272456 RCV003887880
dbSNP Id: rs187218889
ExAC: 3:150690487 G / T
gnomAD v2: 3-150690487-G-T
gnomAD v3: 3-150972700-G-T
gnomAD v4: 3-150972700-G-T
MyVariant Identifiers: chr3:g.150690487G>T (hg19) chr3:g.150972700G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150972700G>T , CM000665.2:g.150972700G>T GRCh38
NC_000003.11:g.150690487G>T , CM000665.1:g.150690487G>T GRCh37
NC_000003.10:g.152173177G>T NCBI36
NG_009168.1:g.5300C>A , LRG_700:g.5300C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327047.6:c.9C>A (CLRN1) MANE Select ENSP00000322280.1:p.Ser3Arg
ENST00000327047.5:c.9C>A (CLRN1) ENSP00000322280.1:p.Ser3Arg
ENST00000328863.8:c.9C>A (CLRN1) ENSP00000329158.4:p.Ser3Arg
ENST00000472224.1:n.15C>A (CLRN1)
NM_001195794.1:c.9C>A , LRG_700t1:c.9C>A (CLRN1) NP_001182723.1:p.Ser3Arg
NM_001256819.1:c.9C>A (CLRN1) NP_001243748.1:p.Ser3Arg
NM_174878.2:c.9C>A (CLRN1) NP_777367.1:p.Ser3Arg
NR_024066.1:n.23G>T (CLRN1-AS1)
NR_046380.2:n.300C>A (CLRN1)
XR_924167.1:n.321C>A (CLRN1)
NR_024066.2:n.23G>T (CLRN1-AS1)
NM_001256819.2:c.9C>A (CLRN1) NP_001243748.1:p.Ser3Arg
NM_174878.3:c.9C>A (CLRN1) MANE Select NP_777367.1:p.Ser3Arg
NR_046380.3:n.28C>A (CLRN1)
Search 100 bp 5'
Search 100 bp 3'