Canonical Allele Identifier: CA85679173
Gene: CLRN1 HGNC NCBI

Linked Data

dbSNP Id: rs539591475
gnomAD v2: 3-150644164-C-T
gnomAD v3: 3-150926377-C-T
gnomAD v4: 3-150926377-C-T
COSMIC: COSN25906328
MyVariant Identifiers: chr3:g.150644164C>T (hg19) chr3:g.150926377C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926377C>T , CM000665.2:g.150926377C>T GRCh38
NC_000003.11:g.150644164C>T , CM000665.1:g.150644164C>T GRCh37
NC_000003.10:g.152126854C>T NCBI36
NG_009168.1:g.51623G>A , LRG_700:g.51623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*475G>A ENSP00000295911.2:n.*475G>A
ENST00000562308.5:c.104+15205G>A
ENST00000565169.1:c.162+15205G>A
ENST00000569170.5:c.162+15205G>A
NM_052995.2:c.*475G>A , LRG_700t2:c.*475G>A NP_443721.1:n.*475G>A
XR_924167.1:n.2570G>A
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