Canonical Allele Identifier: CA011557
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42587
ClinVar RCV Id: RCV000465226 RCV001177056 RCV002482957 RCV004017289 RCV004018745
dbSNP Id: rs397515939
ExAC: 11:47361309 G / A
gnomAD v2: 11-47361309-G-A
gnomAD v3: 11-47339758-G-A
gnomAD v4: 11-47339758-G-A
COSMIC: COSM4033157 COSM4033158
MyVariant Identifiers: chr11:g.47361309G>A (hg19) chr11:g.47339758G>A (hg38)
PubMed: PMID:21750094
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339758G>A , CM000673.2:g.47339758G>A GRCh38
NC_000011.9:g.47361309G>A , CM000673.1:g.47361309G>A GRCh37
NC_000011.8:g.47317885G>A NCBI36
NG_007667.1:g.17945C>T , LRG_386:g.17945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1960C>T MANE Select ENSP00000442795.1:p.Arg654Cys
ENST00000256993.8:c.1960C>T ENSP00000256993.5:p.Arg654Cys
ENST00000399249.6:c.1960C>T ENSP00000382193.2:p.Arg654Cys
ENST00000544791.1:c.1960C>T ENSP00000444259.1:p.Arg654Cys
ENST00000545968.5:c.1960C>T ENSP00000442795.1:p.Arg654Cys
NM_000256.3:c.1960C>T , LRG_386t1:c.1960C>T MANE Select NP_000247.2:p.Arg654Cys
XM_011520117.1:c.1942C>T XP_011518419.1:p.Arg648Cys
XM_011520118.1:c.1960C>T XP_011518420.1:p.Arg654Cys
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