Canonical Allele Identifier: CA546974199
Gene: CLRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1426593492
gnomAD v2: 3-150644126-G-A
gnomAD v3: 3-150926339-G-A
gnomAD v4: 3-150926339-G-A
MyVariant Identifiers: chr3:g.150644126G>A (hg19) chr3:g.150926339G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926339G>A , CM000665.2:g.150926339G>A GRCh38
NC_000003.11:g.150644126G>A , CM000665.1:g.150644126G>A GRCh37
NC_000003.10:g.152126816G>A NCBI36
NG_009168.1:g.51661C>T , LRG_700:g.51661C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*513C>T ENSP00000295911.2:n.*513C>T
ENST00000562308.5:c.104+15243C>T
ENST00000565169.1:c.162+15243C>T
ENST00000569170.5:c.162+15243C>T
NM_052995.2:c.*513C>T , LRG_700t2:c.*513C>T NP_443721.1:n.*513C>T
XR_924167.1:n.2608C>T
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