Canonical Allele Identifier: CA85679133
Gene: CLRN1 HGNC NCBI

Linked Data

dbSNP Id: rs921913439
gnomAD v2: 3-150644053-A-G
gnomAD v3: 3-150926266-A-G
gnomAD v4: 3-150926266-A-G
MyVariant Identifiers: chr3:g.150644053A>G (hg19) chr3:g.150926266A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926266A>G , CM000665.2:g.150926266A>G GRCh38
NC_000003.11:g.150644053A>G , CM000665.1:g.150644053A>G GRCh37
NC_000003.10:g.152126743A>G NCBI36
NG_009168.1:g.51734T>C , LRG_700:g.51734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*586T>C ENSP00000295911.2:n.*586T>C
ENST00000562308.5:c.104+15316T>C
ENST00000565169.1:c.162+15316T>C
ENST00000569170.5:c.162+15316T>C
NM_052995.2:c.*586T>C , LRG_700t2:c.*586T>C NP_443721.1:n.*586T>C
XR_924167.1:n.2681T>C
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