Canonical Allele Identifier: CA079470

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 177677
• ClinVar RCV Id: RCV000158391 ; RCV000495611 ; RCV000527487 ; RCV001170948 ; RCV001254179 ; RCV002223792 ; RCV004551330
• dbSNP Id: rs36212066
• ExAC: 11:47353825 AGAGAGGGAGGGAAGCCATCCAGGCT / A
• gnomAD v2: 11-47353825-AGAGAGGGAGGGAAGCCATCCAGGCT-A
• gnomAD v3: 11-47332274-AGAGAGGGAGGGAAGCCATCCAGGCT-A
• gnomAD v4: 11-47332274-AGAGAGGGAGGGAAGCCATCCAGGCT-A
• MyVariant Identifiers: chr11:g.47353826_47353850del (hg19) ; chr11:g.47332275_47332299del (hg38)
• PubMed: PMID:12788380 ; PMID:18273486 ; PMID:19151713 ; PMID:20201939 ; PMID:21915287 ; PMID:21959974

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332282_47332306del , CM000673.2:g.47332282_47332306del	GRCh38
NC_000011.9:g.47353833_47353857del , CM000673.1:g.47353833_47353857del	GRCh37
NC_000011.8:g.47310409_47310433del	NCBI36
NG_007667.1:g.25404_25428del , LRG_386:g.25404_25428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3628-41_3628-17del MANE Select	ENSP00000442795.1:n.3628-41_3628-17del
ENST00000256993.8:c.3628-41_3628-17del	ENSP00000256993.5:n.3628-41_3628-17del
ENST00000399249.6:c.3628-41_3628-17del	ENSP00000382193.2:n.3628-41_3628-17del
ENST00000545968.5:c.3628-41_3628-17del	ENSP00000442795.1:n.3628-41_3628-17del
NM_000256.3:c.3628-41_3628-17del , LRG_386t1:c.3628-41_3628-17del MANE Select	NP_000247.2:n.3628-41_3628-17del
XM_011520117.1:c.3610-41_3610-17del	XP_011518419.1:n.3610-41_3610-17del
XM_011520118.1:c.3547-41_3547-17del	XP_011518420.1:n.3547-41_3547-17del