Canonical Allele Identifier: CA009794
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181116
ClinVar RCV Id: RCV000158425 RCV002433698
dbSNP Id: rs730880688
MyVariant Identifiers: chr11:g.47365146dupG (hg19) chr11:g.47365145_47365146insG (hg19) chr11:g.47343595dupG (hg38) chr11:g.47343594_47343595insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343596dup , CM000673.2:g.47343596dup GRCh38
NC_000011.9:g.47365147dup , CM000673.1:g.47365147dup GRCh37
NC_000011.8:g.47321723dup NCBI36
NG_007667.1:g.14108dup , LRG_386:g.14108dup

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1120dup MANE Select ENSP00000442795.1:p.Gln374ProfsTer16
ENST00000256993.8:c.1120dup ENSP00000256993.5:p.Gln374ProfsTer16
ENST00000399249.6:c.1120dup ENSP00000382193.2:p.Gln374ProfsTer16
ENST00000544791.1:c.1120dup ENSP00000444259.1:p.Gln374ProfsTer16
ENST00000545968.5:c.1120dup ENSP00000442795.1:p.Gln374ProfsTer16
NM_000256.3:c.1120dup , LRG_386t1:c.1120dup MANE Select NP_000247.2:p.Gln374ProfsTer16
XM_011520117.1:c.1102dup XP_011518419.1:p.Gln368ProfsTer16
XM_011520118.1:c.1120dup XP_011518420.1:p.Gln374ProfsTer16
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