Canonical Allele Identifier: CA2668196642
Gene: CLRN1 HGNC NCBI

Linked Data

gnomAD v4: 3-150926360-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926360C>A , CM000665.2:g.150926360C>A GRCh38
NC_000003.11:g.150644147C>A , CM000665.1:g.150644147C>A GRCh37
NC_000003.10:g.152126837C>A NCBI36
NG_009168.1:g.51640G>T , LRG_700:g.51640G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*492G>T ENSP00000295911.2:n.*492G>T
ENST00000562308.5:c.104+15222G>T
ENST00000565169.1:c.162+15222G>T
ENST00000569170.5:c.162+15222G>T
NM_052995.2:c.*492G>T , LRG_700t2:c.*492G>T NP_443721.1:n.*492G>T
XR_924167.1:n.2587G>T
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