Canonical Allele Identifier: CA915948131
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 636807
ClinVar RCV Id: RCV000788745
dbSNP Id: rs1595841767
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333597del , CM000673.2:g.47333597del GRCh38
NC_000011.9:g.47355148del , CM000673.1:g.47355148del GRCh37
NC_000011.8:g.47311724del NCBI36
NG_007667.1:g.24106del , LRG_386:g.24106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3150del MANE Select ENSP00000442795.1:p.Asn1051ThrfsTer24
ENST00000256993.8:c.3150del ENSP00000256993.5:p.Asn1051ThrfsTer24
ENST00000399249.6:c.3150del ENSP00000382193.2:p.Asn1051ThrfsTer24
ENST00000545968.5:c.3150del ENSP00000442795.1:p.Asn1051ThrfsTer24
NM_000256.3:c.3150del , LRG_386t1:c.3150del MANE Select NP_000247.2:p.Asn1051ThrfsTer24
XM_011520117.1:c.3132del XP_011518419.1:p.Asn1045ThrfsTer24
XM_011520118.1:c.3069del XP_011518420.1:p.Asn1024ThrfsTer24
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