Canonical Allele Identifier: CA042311

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 921429
• ClinVar RCV Id: RCV001180847 ; RCV001349982 ; RCV001751320 ; RCV003293934
• dbSNP Id: rs775069579
• ExAC: 11:47367763 CTCT / C
• gnomAD v2: 11-47367763-CTCT-C
• gnomAD v3: 11-47346212-CTCT-C
• gnomAD v4: 11-47346212-CTCT-C
• MyVariant Identifiers: chr11:g.47367764_47367766del (hg19) ; chr11:g.47346213_47346215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47346219_47346221del , CM000673.2:g.47346219_47346221del	GRCh38
NC_000011.9:g.47367770_47367772del , CM000673.1:g.47367770_47367772del	GRCh37
NC_000011.8:g.47324346_47324348del	NCBI36
NG_007667.1:g.11488_11490del , LRG_386:g.11488_11490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1082_1084del MANE Select	ENSP00000442795.1:p.Lys361del
ENST00000256993.8:c.1082_1084del	ENSP00000256993.5:p.Lys361del
ENST00000399249.6:c.1082_1084del	ENSP00000382193.2:p.Lys361del
ENST00000544791.1:c.1082_1084del	ENSP00000444259.1:p.Lys361del
ENST00000545968.5:c.1082_1084del	ENSP00000442795.1:p.Lys361del
NM_000256.3:c.1082_1084del , LRG_386t1:c.1082_1084del MANE Select	NP_000247.2:p.Lys361del
XM_011520117.1:c.1064_1066del	XP_011518419.1:p.Lys355del
XM_011520118.1:c.1082_1084del	XP_011518420.1:p.Lys361del