Canonical Allele Identifier: CA011164

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181074
• ClinVar RCV Id: RCV000158352 ; RCV001065541
• dbSNP Id: rs730880647
• MyVariant Identifiers: chr11:g.47362794del (hg19) ; chr11:g.47341243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341245del , CM000673.2:g.47341245del	GRCh38
NC_000011.9:g.47362796del , CM000673.1:g.47362796del	GRCh37
NC_000011.8:g.47319372del	NCBI36
NG_007667.1:g.16460del , LRG_386:g.16460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1792del
ENST00000256993.8:c.1792del
ENST00000399249.6:c.1792del
ENST00000544791.1:c.1792del
ENST00000545968.5:c.1792del
NM_000256.3:c.1792del , LRG_386t1:c.1792del
XM_011520117.1:c.1774del
XM_011520118.1:c.1792del