Canonical Allele Identifier: CA599374233

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2835828
• ClinVar RCV Id: RCV003750010
• dbSNP Id: rs1373991646
• gnomAD v2: 11-47364823-A-C
• gnomAD v4: 11-47343272-A-C
• MyVariant Identifiers: chr11:g.47364823A>C (hg19) ; chr11:g.47343272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343272A>C , CM000673.2:g.47343272A>C	GRCh38
NC_000011.9:g.47364823A>C , CM000673.1:g.47364823A>C	GRCh37
NC_000011.8:g.47321399A>C	NCBI36
NG_007667.1:g.14431T>G , LRG_386:g.14431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-10T>G MANE Select	ENSP00000442795.1:n.1224-10T>G
ENST00000256993.8:c.1224-124T>G	ENSP00000256993.5:n.1224-124T>G
ENST00000399249.6:c.1224-10T>G	ENSP00000382193.2:n.1224-10T>G
ENST00000544791.1:c.1224-10T>G	ENSP00000444259.1:n.1224-10T>G
ENST00000545968.5:c.1224-10T>G	ENSP00000442795.1:n.1224-10T>G
NM_000256.3:c.1224-10T>G , LRG_386t1:c.1224-10T>G MANE Select	NP_000247.2:n.1224-10T>G
XM_011520117.1:c.1206-10T>G	XP_011518419.1:n.1206-10T>G
XM_011520118.1:c.1224-10T>G	XP_011518420.1:n.1224-10T>G