Canonical Allele Identifier: CA011401

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42580
• ClinVar RCV Id: RCV000035448 ; RCV000520707
• dbSNP Id: rs397515933
• MyVariant Identifiers: chr11:g.47362694del (hg19) ; chr11:g.47341143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341144del , CM000673.2:g.47341144del	GRCh38
NC_000011.9:g.47362695del , CM000673.1:g.47362695del	GRCh37
NC_000011.8:g.47319271del	NCBI36
NG_007667.1:g.16560del , LRG_386:g.16560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1892del MANE Select	ENSP00000442795.1:p.Phe631SerfsTer?
ENST00000256993.8:c.1892del	ENSP00000256993.5:p.Phe631SerfsTer?
ENST00000399249.6:c.1892del	ENSP00000382193.2:p.Phe631SerfsTer?
ENST00000544791.1:c.1892del	ENSP00000444259.1:p.Phe631SerfsTer?
ENST00000545968.5:c.1892del	ENSP00000442795.1:p.Phe631SerfsTer?
NM_000256.3:c.1892del , LRG_386t1:c.1892del MANE Select	NP_000247.2:p.Phe631SerfsTer?
XM_011520117.1:c.1874del	XP_011518419.1:p.Phe625SerfsTer?
XM_011520118.1:c.1892del	XP_011518420.1:p.Phe631SerfsTer?