Canonical Allele Identifier: CA012008
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 42611
dbSNP Id: rs112738974

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338519C>A , CM000673.2:g.47338519C>A GRCh38
NC_000011.8:g.47316646C>A NCBI36
NC_000011.9:g.47360070C>A , CM000673.1:g.47360070C>A GRCh37
NG_007667.1:g.19184G>T , LRG_386:g.19184G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256993.8:c.2308+1G>T ENSP00000256993.5:p.=
ENST00000399249.6:c.2308+1G>T ENSP00000382193.2:p.=
ENST00000544791.1:c.2308+1G>T ENSP00000444259.1:p.=
ENST00000545968.5:c.2308+1G>T ENSP00000442795.1:p.=
NM_000256.3:c.2308+1G>T , LRG_386t1:c.2308+1G>T NP_000247.2:p.=
XM_011520117.1:c.2290+1G>T XP_011518419.1:p.=
XM_011520118.1:c.2227+1G>T XP_011518420.1:p.=