Canonical Allele Identifier: CA1139661936

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 963722
• ClinVar RCV Id: RCV001237790 ; RCV002290653
• dbSNP Id: rs2095891398

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343587del , CM000673.2:g.47343587del	GRCh38
NC_000011.9:g.47365138del , CM000673.1:g.47365138del	GRCh37
NC_000011.8:g.47321714del	NCBI36
NG_007667.1:g.14116del , LRG_386:g.14116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1128del MANE Select	ENSP00000442795.1:p.Ser376ArgfsTer8
ENST00000256993.8:c.1128del	ENSP00000256993.5:p.Ser376ArgfsTer8
ENST00000399249.6:c.1128del	ENSP00000382193.2:p.Ser376ArgfsTer8
ENST00000544791.1:c.1128del	ENSP00000444259.1:p.Ser376ArgfsTer8
ENST00000545968.5:c.1128del	ENSP00000442795.1:p.Ser376ArgfsTer8
NM_000256.3:c.1128del , LRG_386t1:c.1128del MANE Select	NP_000247.2:p.Ser376ArgfsTer8
XM_011520117.1:c.1110del	XP_011518419.1:p.Ser370ArgfsTer8
XM_011520118.1:c.1128del	XP_011518420.1:p.Ser376ArgfsTer8