Canonical Allele Identifier: CA2666033
Gene: CLRN1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.150928174A>C
GRCh37 chr3:g.150645961A>C
Revel Score:
ENST00000295911 0.785
ENST00000327047 (MANE Select) 0.785
ENST00000328863 0.785
ENST00000468836 0.785
gnomAD v2:
3:150645961 A / C
gnomAD v3:
3:150928174 A / C
gnomAD v4:
chr3-150928174-A-C
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000023537
RCV002513194
ClinVar Variation:
30574
dbSNP:
775098953
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150928174A>C , CM000665.2:g.150928174A>C GRCh38
NC_000003.11:g.150645961A>C , CM000665.1:g.150645961A>C GRCh37
NC_000003.10:g.152128651A>C NCBI36
NG_009168.1:g.49826T>G , LRG_700:g.49826T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327047.6:c.461T>G MANE Select ENSP00000322280.1:p.Leu154Trp
ENST00000468836.2:c.609T>G ENSP00000419892.2:n.609T>G
ENST00000295911.6:c.233T>G ENSP00000295911.2:p.Leu78Trp
ENST00000327047.5:c.461T>G ENSP00000322280.1:p.Leu154Trp
ENST00000328863.8:c.500T>G ENSP00000329158.4:p.Leu167Trp
ENST00000468836.1:c.233T>G ENSP00000419892.1:p.Leu78Trp
ENST00000562308.5:c.104+13408T>G
ENST00000565169.1:c.162+13408T>G
ENST00000569170.5:c.162+13408T>G
NM_001195794.1:c.500T>G , LRG_700t1:c.500T>G NP_001182723.1:p.Leu167Trp
NM_001256819.1:c.*75T>G NP_001243748.1:n.*75T>G
NM_052995.2:c.233T>G , LRG_700t2:c.233T>G NP_443721.1:p.Leu78Trp
NM_174878.2:c.461T>G NP_777367.1:p.Leu154Trp
NR_046380.2:n.942T>G
XR_924167.1:n.773T>G
NM_001256819.2:c.*75T>G NP_001243748.1:n.*75T>G
NM_174878.3:c.461T>G MANE Select NP_777367.1:p.Leu154Trp
NR_046380.3:n.670T>G
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