Canonical Allele Identifier: CA913190286

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 626517
• ClinVar RCV Id: RCV000769349
• dbSNP Id: rs397515889

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343548dup , CM000673.2:g.47343548dup	GRCh38
NC_000011.9:g.47365099dup , CM000673.1:g.47365099dup	GRCh37
NC_000011.8:g.47321675dup	NCBI36
NG_007667.1:g.14156dup , LRG_386:g.14156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1168dup MANE Select	ENSP00000442795.1:p.His390ProfsTer2
ENST00000256993.8:c.1168dup	ENSP00000256993.5:p.His390ProfsTer2
ENST00000399249.6:c.1168dup	ENSP00000382193.2:p.His390ProfsTer2
ENST00000544791.1:c.1168dup	ENSP00000444259.1:p.His390ProfsTer2
ENST00000545968.5:c.1168dup	ENSP00000442795.1:p.His390ProfsTer2
NM_000256.3:c.1168dup , LRG_386t1:c.1168dup MANE Select	NP_000247.2:p.His390ProfsTer2
XM_011520117.1:c.1150dup	XP_011518419.1:p.His384ProfsTer2
XM_011520118.1:c.1168dup	XP_011518420.1:p.His390ProfsTer2