Canonical Allele Identifier: CA915948158
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 637963
ClinVar RCV Id: RCV000790428
dbSNP Id: rs1595846398
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342920del , CM000673.2:g.47342920del GRCh38
NC_000011.9:g.47364471del , CM000673.1:g.47364471del GRCh37
NC_000011.8:g.47321047del NCBI36
NG_007667.1:g.14783del , LRG_386:g.14783del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1367del MANE Select ENSP00000442795.1:p.Ile456ThrfsTer10
ENST00000256993.8:c.1367del ENSP00000256993.5:p.Ile456ThrfsTer10
ENST00000399249.6:c.1367del ENSP00000382193.2:p.Ile456ThrfsTer10
ENST00000544791.1:c.1367del ENSP00000444259.1:p.Ile456ThrfsTer10
ENST00000545968.5:c.1367del ENSP00000442795.1:p.Ile456ThrfsTer10
NM_000256.3:c.1367del , LRG_386t1:c.1367del MANE Select NP_000247.2:p.Ile456ThrfsTer10
XM_011520117.1:c.1349del XP_011518419.1:p.Ile450ThrfsTer10
XM_011520118.1:c.1367del XP_011518420.1:p.Ile456ThrfsTer10
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