Canonical Allele Identifier: CA474218078
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2773729
ClinVar RCV Id: RCV003532603
gnomAD v4: 11-47341007-C-T
MyVariant Identifiers: chr11:g.47362558C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341007C>T , CM000673.2:g.47341007C>T GRCh38
NC_000011.9:g.47362558C>T , CM000673.1:g.47362558C>T GRCh37
NC_000011.8:g.47319134C>T NCBI36
NG_007667.1:g.16696G>A , LRG_386:g.16696G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1923G>A MANE Select ENSP00000442795.1:p.Arg641=
ENST00000256993.8:c.1923G>A ENSP00000256993.5:p.Arg641=
ENST00000399249.6:c.1923G>A ENSP00000382193.2:p.Arg641=
ENST00000544791.1:c.1923G>A ENSP00000444259.1:p.Arg641=
ENST00000545968.5:c.1923G>A ENSP00000442795.1:p.Arg641=
NM_000256.3:c.1923G>A , LRG_386t1:c.1923G>A MANE Select NP_000247.2:p.Arg641=
XM_011520117.1:c.1905G>A XP_011518419.1:p.Arg635=
XM_011520118.1:c.1923G>A XP_011518420.1:p.Arg641=
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