Canonical Allele Identifier: CA013009

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42659
• ClinVar RCV Id: RCV000035529 ; RCV001170197 ; RCV001365207 ; RCV003298046 ; RCV002477067
• dbSNP Id: rs397515986
• ExAC: 11:47356670 C / T
• gnomAD v2: 11-47356670-C-T
• gnomAD v3: 11-47335119-C-T
• gnomAD v4: 11-47335119-C-T
• MyVariant Identifiers: chr11:g.47356670C>T (hg19) ; chr11:g.47335119C>T (hg38)
• PubMed: PMID:23283745

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47335119C>T , CM000673.2:g.47335119C>T	GRCh38
NC_000011.9:g.47356670C>T , CM000673.1:g.47356670C>T	GRCh37
NC_000011.8:g.47313246C>T	NCBI36
NG_007667.1:g.22584G>A , LRG_386:g.22584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2828G>A MANE Select	ENSP00000442795.1:p.Arg943Gln
ENST00000256993.8:c.2828G>A	ENSP00000256993.5:p.Arg943Gln
ENST00000399249.6:c.2828G>A	ENSP00000382193.2:p.Arg943Gln
ENST00000545968.5:c.2828G>A	ENSP00000442795.1:p.Arg943Gln
NM_000256.3:c.2828G>A , LRG_386t1:c.2828G>A MANE Select	NP_000247.2:p.Arg943Gln
XM_011520117.1:c.2810G>A	XP_011518419.1:p.Arg937Gln
XM_011520118.1:c.2747G>A	XP_011518420.1:p.Arg916Gln