Canonical Allele Identifier: CA221700725
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178058
ClinVar RCV Id: RCV002588498
dbSNP Id: rs893288216
gnomAD v2: 11-47367742-C-T
gnomAD v3: 11-47346191-C-T
gnomAD v4: 11-47346191-C-T
MyVariant Identifiers: chr11:g.47367742C>T (hg19) chr11:g.47346191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346191C>T , CM000673.2:g.47346191C>T GRCh38
NC_000011.9:g.47367742C>T , CM000673.1:g.47367742C>T GRCh37
NC_000011.8:g.47324318C>T NCBI36
NG_007667.1:g.11512G>A , LRG_386:g.11512G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1090+16G>A MANE Select ENSP00000442795.1:n.1090+16G>A
ENST00000256993.8:c.1090+16G>A ENSP00000256993.5:n.1090+16G>A
ENST00000399249.6:c.1090+16G>A ENSP00000382193.2:n.1090+16G>A
ENST00000544791.1:c.1090+16G>A ENSP00000444259.1:n.1090+16G>A
ENST00000545968.5:c.1090+16G>A ENSP00000442795.1:n.1090+16G>A
NM_000256.3:c.1090+16G>A , LRG_386t1:c.1090+16G>A MANE Select NP_000247.2:n.1090+16G>A
XM_011520117.1:c.1072+16G>A XP_011518419.1:n.1072+16G>A
XM_011520118.1:c.1090+16G>A XP_011518420.1:n.1090+16G>A
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