Canonical Allele Identifier: CA009733

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181115
• ClinVar RCV Id: RCV000158424
• dbSNP Id: rs730880687
• MyVariant Identifiers: chr11:g.47367776_47367779delinsGC (hg19) ; chr11:g.47346225_47346228delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346225_47346228delinsGC , CM000673.2:g.47346225_47346228delinsGC	GRCh38
NC_000011.9:g.47367776_47367779delinsGC , CM000673.1:g.47367776_47367779delinsGC	GRCh37
NC_000011.8:g.47324352_47324355delinsGC	NCBI36
NG_007667.1:g.11475_11478delinsGC , LRG_386:g.11475_11478delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1069_1072delinsGC MANE Select	ENSP00000442795.1:p.Arg357AlafsTer2
ENST00000256993.8:c.1069_1072delinsGC	ENSP00000256993.5:p.Arg357AlafsTer2
ENST00000399249.6:c.1069_1072delinsGC	ENSP00000382193.2:p.Arg357AlafsTer2
ENST00000544791.1:c.1069_1072delinsGC	ENSP00000444259.1:p.Arg357AlafsTer2
ENST00000545968.5:c.1069_1072delinsGC	ENSP00000442795.1:p.Arg357AlafsTer2
NM_000256.3:c.1069_1072delinsGC , LRG_386t1:c.1069_1072delinsGC MANE Select	NP_000247.2:p.Arg357AlafsTer2
XM_011520117.1:c.1051_1054delinsGC	XP_011518419.1:p.Arg351AlafsTer2
XM_011520118.1:c.1069_1072delinsGC	XP_011518420.1:p.Arg357AlafsTer2