Canonical Allele Identifier: CA380310565
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2625335
ClinVar RCV Id: RCV003380094
dbSNP Id: rs730880141
gnomAD v4: 11-47332105-C-G
MyVariant Identifiers: chr11:g.47353656C>G (hg19) chr11:g.47332105C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332105C>G , CM000673.2:g.47332105C>G GRCh38
NC_000011.9:g.47353656C>G , CM000673.1:g.47353656C>G GRCh37
NC_000011.8:g.47310232C>G NCBI36
NG_007667.1:g.25598G>C , LRG_386:g.25598G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3781G>C MANE Select ENSP00000442795.1:p.Glu1261Gln
ENST00000256993.8:c.3781G>C ENSP00000256993.5:p.Glu1261Gln
ENST00000399249.6:c.3781G>C ENSP00000382193.2:p.Glu1261Gln
ENST00000545968.5:c.3781G>C ENSP00000442795.1:p.Glu1261Gln
NM_000256.3:c.3781G>C , LRG_386t1:c.3781G>C MANE Select NP_000247.2:p.Glu1261Gln
XM_011520117.1:c.3763G>C XP_011518419.1:p.Glu1255Gln
XM_011520118.1:c.3700G>C XP_011518420.1:p.Glu1234Gln
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