Canonical Allele Identifier: CA85679117
Gene: CLRN1 HGNC NCBI

Linked Data

dbSNP Id: rs975028881
gnomAD v2: 3-150644037-G-C
gnomAD v3: 3-150926250-G-C
gnomAD v4: 3-150926250-G-C
MyVariant Identifiers: chr3:g.150644037G>C (hg19) chr3:g.150926250G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926250G>C , CM000665.2:g.150926250G>C GRCh38
NC_000003.11:g.150644037G>C , CM000665.1:g.150644037G>C GRCh37
NC_000003.10:g.152126727G>C NCBI36
NG_009168.1:g.51750C>G , LRG_700:g.51750C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*602C>G ENSP00000295911.2:n.*602C>G
ENST00000562308.5:c.104+15332C>G
ENST00000565169.1:c.162+15332C>G
ENST00000569170.5:c.162+15332C>G
NM_052995.2:c.*602C>G , LRG_700t2:c.*602C>G NP_443721.1:n.*602C>G
XR_924167.1:n.2697C>G
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