Canonical Allele Identifier: CA014233
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42715
ClinVar RCV Id: RCV003372600
dbSNP Id: rs397516020
MyVariant Identifiers: chr11:g.47354364C>T (hg19) chr11:g.47332813C>T (hg38)
PubMed: PMID:9218526
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332813C>T , CM000673.2:g.47332813C>T GRCh38
NC_000011.9:g.47354364C>T , CM000673.1:g.47354364C>T GRCh37
NC_000011.8:g.47310940C>T NCBI36
NG_007667.1:g.24890G>A , LRG_386:g.24890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3490+1G>A MANE Select ENSP00000442795.1:n.3490+1G>A
ENST00000256993.8:c.3490+1G>A ENSP00000256993.5:n.3490+1G>A
ENST00000399249.6:c.3490+1G>A ENSP00000382193.2:n.3490+1G>A
ENST00000545968.5:c.3490+1G>A ENSP00000442795.1:n.3490+1G>A
NM_000256.3:c.3490+1G>A , LRG_386t1:c.3490+1G>A MANE Select NP_000247.2:n.3490+1G>A
XM_011520117.1:c.3472+1G>A XP_011518419.1:n.3472+1G>A
XM_011520118.1:c.3409+1G>A XP_011518420.1:n.3409+1G>A
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