Canonical Allele Identifier: CA013150
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42668
ClinVar RCV Id: RCV000035539 RCV000413682 RCV000770333
dbSNP Id: rs193922381
gnomAD v4: 11-47335037-C-A
MyVariant Identifiers: chr11:g.47356588C>A (hg19) chr11:g.47335037C>A (hg38)
PubMed: PMID:25351510 PMID:28679633
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335037C>A , CM000673.2:g.47335037C>A GRCh38
NC_000011.9:g.47356588C>A , CM000673.1:g.47356588C>A GRCh37
NC_000011.8:g.47313164C>A NCBI36
NG_007667.1:g.22666G>T , LRG_386:g.22666G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2905+5G>T MANE Select ENSP00000442795.1:n.2905+5G>T
ENST00000256993.8:c.2905+5G>T ENSP00000256993.5:n.2905+5G>T
ENST00000399249.6:c.2905+5G>T ENSP00000382193.2:n.2905+5G>T
ENST00000545968.5:c.2905+5G>T ENSP00000442795.1:n.2905+5G>T
NM_000256.3:c.2905+5G>T , LRG_386t1:c.2905+5G>T MANE Select NP_000247.2:n.2905+5G>T
XM_011520117.1:c.2887+5G>T XP_011518419.1:n.2887+5G>T
XM_011520118.1:c.2824+5G>T XP_011518420.1:n.2824+5G>T
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