Canonical Allele Identifier: CA546974216
Gene: CLRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1246532197
gnomAD v2: 3-150644335-T-C
gnomAD v4: 3-150926548-T-C
MyVariant Identifiers: chr3:g.150644335T>C (hg19) chr3:g.150926548T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926548T>C , CM000665.2:g.150926548T>C GRCh38
NC_000003.11:g.150644335T>C , CM000665.1:g.150644335T>C GRCh37
NC_000003.10:g.152127025T>C NCBI36
NG_009168.1:g.51452A>G , LRG_700:g.51452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*304A>G ENSP00000295911.2:n.*304A>G
ENST00000562308.5:c.104+15034A>G
ENST00000565169.1:c.162+15034A>G
ENST00000569170.5:c.162+15034A>G
NM_052995.2:c.*304A>G , LRG_700t2:c.*304A>G NP_443721.1:n.*304A>G
XR_924167.1:n.2399A>G
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