Canonical Allele Identifier: CA474429299
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870015
ClinVar RCV Id: RCV003747987
gnomAD v4: 11-47333741-C-T
MyVariant Identifiers: chr11:g.47355292C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333741C>T , CM000673.2:g.47333741C>T GRCh38
NC_000011.9:g.47355292C>T , CM000673.1:g.47355292C>T GRCh37
NC_000011.8:g.47311868C>T NCBI36
NG_007667.1:g.23962G>A , LRG_386:g.23962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3006G>A MANE Select ENSP00000442795.1:p.Arg1002=
ENST00000256993.8:c.3006G>A ENSP00000256993.5:p.Arg1002=
ENST00000399249.6:c.3006G>A ENSP00000382193.2:p.Arg1002=
ENST00000545968.5:c.3006G>A ENSP00000442795.1:p.Arg1002=
NM_000256.3:c.3006G>A , LRG_386t1:c.3006G>A MANE Select NP_000247.2:p.Arg1002=
XM_011520117.1:c.2988G>A XP_011518419.1:p.Arg996=
XM_011520118.1:c.2925G>A XP_011518420.1:p.Arg975=
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