Canonical Allele Identifier: CA014478

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181014
• ClinVar RCV Id: RCV000158247 ; RCV000168378 ; RCV000449593 ; RCV000618734 ; RCV000777734
• dbSNP Id: rs730880596
• ExAC: 11:47354130 C / T
• gnomAD v2: 11-47354130-C-T
• gnomAD v3: 11-47332579-C-T
• gnomAD v4: 11-47332579-C-T
• MyVariant Identifiers: chr11:g.47354130C>T (hg19) ; chr11:g.47332579C>T (hg38)
• PubMed: PMID:22958901 ; PMID:24793961 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332579C>T , CM000673.2:g.47332579C>T	GRCh38
NC_000011.9:g.47354130C>T , CM000673.1:g.47354130C>T	GRCh37
NC_000011.8:g.47310706C>T	NCBI36
NG_007667.1:g.25124G>A , LRG_386:g.25124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3614G>A MANE Select	ENSP00000442795.1:p.Arg1205Gln
ENST00000256993.8:c.3614G>A	ENSP00000256993.5:p.Arg1205Gln
ENST00000399249.6:c.3614G>A	ENSP00000382193.2:p.Arg1205Gln
ENST00000545968.5:c.3614G>A	ENSP00000442795.1:p.Arg1205Gln
NM_000256.3:c.3614G>A , LRG_386t1:c.3614G>A MANE Select	NP_000247.2:p.Arg1205Gln
XM_011520117.1:c.3596G>A	XP_011518419.1:p.Arg1199Gln
XM_011520118.1:c.3533G>A	XP_011518420.1:p.Arg1178Gln