Canonical Allele Identifier: CA474220554

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2448108
• ClinVar RCV Id: RCV003168180
• dbSNP Id: rs1555122449
• gnomAD v4: 11-47343572-G-A
• MyVariant Identifiers: chr11:g.47365123G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343572G>A , CM000673.2:g.47343572G>A	GRCh38
NC_000011.9:g.47365123G>A , CM000673.1:g.47365123G>A	GRCh37
NC_000011.8:g.47321699G>A	NCBI36
NG_007667.1:g.14131C>T , LRG_386:g.14131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1143C>T MANE Select	ENSP00000442795.1:p.Ile381=
ENST00000256993.8:c.1143C>T	ENSP00000256993.5:p.Ile381=
ENST00000399249.6:c.1143C>T	ENSP00000382193.2:p.Ile381=
ENST00000544791.1:c.1143C>T	ENSP00000444259.1:p.Ile381=
ENST00000545968.5:c.1143C>T	ENSP00000442795.1:p.Ile381=
NM_000256.3:c.1143C>T , LRG_386t1:c.1143C>T MANE Select	NP_000247.2:p.Ile381=
XM_011520117.1:c.1125C>T	XP_011518419.1:p.Ile375=
XM_011520118.1:c.1143C>T	XP_011518420.1:p.Ile381=