Canonical Allele Identifier: CA013684

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42694
• ClinVar RCV Id: RCV000158395 ; RCV000252468 ; RCV000470975 ; RCV001176298
• dbSNP Id: rs397516008
• gnomAD v2: 11-47354848-T-TA
• gnomAD v3: 11-47333297-T-TA
• gnomAD v4: 11-47333297-T-TA
• MyVariant Identifiers: chr11:g.47354848_47354849insA (hg19) ; chr11:g.47333297_47333298insA (hg38)
• PubMed: PMID:20474083 ; PMID:21750094 ; PMID:22057632 ; PMID:24510615 ; PMID:24721642 ; PMID:24793961 ; PMID:25611685

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333297_47333298insA , CM000673.2:g.47333297_47333298insA	GRCh38
NC_000011.9:g.47354848_47354849insA , CM000673.1:g.47354848_47354849insA	GRCh37
NC_000011.8:g.47311424_47311425insA	NCBI36
NG_007667.1:g.24405_24406insT , LRG_386:g.24405_24406insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3226_3227insT MANE Select	ENSP00000442795.1:p.Asp1076ValfsTer6
ENST00000256993.8:c.3226_3227insT	ENSP00000256993.5:p.Asp1076ValfsTer6
ENST00000399249.6:c.3226_3227insT	ENSP00000382193.2:p.Asp1076ValfsTer6
ENST00000545968.5:c.3226_3227insT	ENSP00000442795.1:p.Asp1076ValfsTer6
NM_000256.3:c.3226_3227insT , LRG_386t1:c.3226_3227insT MANE Select	NP_000247.2:p.Asp1076ValfsTer6
XM_011520117.1:c.3208_3209insT	XP_011518419.1:p.Asp1070ValfsTer6
XM_011520118.1:c.3145_3146insT	XP_011518420.1:p.Asp1049ValfsTer6