Canonical Allele Identifier: CA043047
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 847649
ClinVar RCV Id: RCV001051243
dbSNP Id: rs749000345
ExAC: 11:47365086 C / T
gnomAD v2: 11-47365086-C-T
gnomAD v4: 11-47343535-C-T
MyVariant Identifiers: chr11:g.47365086C>T (hg19) chr11:g.47343535C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343535C>T , CM000673.2:g.47343535C>T GRCh38
NC_000011.9:g.47365086C>T , CM000673.1:g.47365086C>T GRCh37
NC_000011.8:g.47321662C>T NCBI36
NG_007667.1:g.14168G>A , LRG_386:g.14168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1180G>A MANE Select ENSP00000442795.1:p.Val394Ile
ENST00000256993.8:c.1180G>A ENSP00000256993.5:p.Val394Ile
ENST00000399249.6:c.1180G>A ENSP00000382193.2:p.Val394Ile
ENST00000544791.1:c.1180G>A ENSP00000444259.1:p.Val394Ile
ENST00000545968.5:c.1180G>A ENSP00000442795.1:p.Val394Ile
NM_000256.3:c.1180G>A , LRG_386t1:c.1180G>A MANE Select NP_000247.2:p.Val394Ile
XM_011520117.1:c.1162G>A XP_011518419.1:p.Val388Ile
XM_011520118.1:c.1180G>A XP_011518420.1:p.Val394Ile
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