Canonical Allele Identifier: CA16619342
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418933
ClinVar RCV Id: RCV000484933
dbSNP Id: rs1064793536
MyVariant Identifiers: chr11:g.47367870del (hg19) chr11:g.47346319del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346320del , CM000673.2:g.47346320del GRCh38
NC_000011.9:g.47367871del , CM000673.1:g.47367871del GRCh37
NC_000011.8:g.47324447del NCBI36
NG_007667.1:g.11384del , LRG_386:g.11384del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.978del MANE Select ENSP00000442795.1:p.Gln327ArgfsTer23
ENST00000256993.8:c.978del ENSP00000256993.5:p.Gln327ArgfsTer23
ENST00000399249.6:c.978del ENSP00000382193.2:p.Gln327ArgfsTer23
ENST00000544791.1:c.978del ENSP00000444259.1:p.Gln327ArgfsTer23
ENST00000545968.5:c.978del ENSP00000442795.1:p.Gln327ArgfsTer23
NM_000256.3:c.978del , LRG_386t1:c.978del MANE Select NP_000247.2:p.Gln327ArgfsTer23
XM_011520117.1:c.960del XP_011518419.1:p.Gln321ArgfsTer23
XM_011520118.1:c.978del XP_011518420.1:p.Gln327ArgfsTer23
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