Canonical Allele Identifier: CA078720

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2735592
• ClinVar RCV Id: RCV003587402
• dbSNP Id: rs751637847
• ExAC: 11:47359132 T / C
• gnomAD v4: 11-47337581-T-C
• MyVariant Identifiers: chr11:g.47359132T>C (hg19) ; chr11:g.47337581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337581T>C , CM000673.2:g.47337581T>C	GRCh38
NC_000011.9:g.47359132T>C , CM000673.1:g.47359132T>C	GRCh37
NC_000011.8:g.47315708T>C	NCBI36
NG_007667.1:g.20122A>G , LRG_386:g.20122A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2414-2A>G MANE Select	ENSP00000442795.1:n.2414-2A>G
ENST00000256993.8:c.2414-2A>G	ENSP00000256993.5:n.2414-2A>G
ENST00000399249.6:c.2414-2A>G	ENSP00000382193.2:n.2414-2A>G
ENST00000544791.1:c.2414-70A>G	ENSP00000444259.1:n.2414-70A>G
ENST00000545968.5:c.2414-2A>G	ENSP00000442795.1:n.2414-2A>G
NM_000256.3:c.2414-2A>G , LRG_386t1:c.2414-2A>G MANE Select	NP_000247.2:n.2414-2A>G
XM_011520117.1:c.2396-2A>G	XP_011518419.1:n.2396-2A>G
XM_011520118.1:c.2333-2A>G	XP_011518420.1:n.2333-2A>G