Canonical Allele Identifier: CA015883
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42791
dbSNP Id: rs397516073

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347856C>T , CM000673.2:g.47347856C>T GRCh38
NC_000011.9:g.47369407C>T , CM000673.1:g.47369407C>T GRCh37
NC_000011.8:g.47325983C>T NCBI36
NG_007667.1:g.9847G>A , LRG_386:g.9847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.821+1G>A MANE Select ENSP00000442795.1:n.821+1G>A
ENST00000256993.8:c.821+1G>A ENSP00000256993.5:n.821+1G>A
ENST00000399249.6:c.821+1G>A ENSP00000382193.2:n.821+1G>A
ENST00000544791.1:c.821+1G>A ENSP00000444259.1:n.821+1G>A
ENST00000545968.5:c.821+1G>A ENSP00000442795.1:n.821+1G>A
NM_000256.3:c.821+1G>A , LRG_386t1:c.821+1G>A MANE Select NP_000247.2:n.821+1G>A
XM_011520117.1:c.821+1G>A XP_011518419.1:n.821+1G>A
XM_011520118.1:c.821+1G>A XP_011518420.1:n.821+1G>A