Canonical Allele Identifier: CA011565
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 42588
dbSNP Id: rs1800565

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339757C>T , CM000673.2:g.47339757C>T GRCh38
NC_000011.9:g.47361308C>T , CM000673.1:g.47361308C>T GRCh37
NC_000011.8:g.47317884C>T NCBI36
NG_007667.1:g.17946G>A , LRG_386:g.17946G>A

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.1961G>A , LRG_386t1:c.1961G>A NP_000247.2:p.Arg654His
XM_011520117.1:c.1943G>A XP_011518419.1:p.Arg648His
XM_011520118.1:c.1961G>A XP_011518420.1:p.Arg654His
ENST00000256993.8:c.1961G>A ENSP00000256993.5:p.Arg654His
ENST00000399249.6:c.1961G>A ENSP00000382193.2:p.Arg654His
ENST00000544791.1:c.1961G>A ENSP00000444259.1:p.Arg654His
ENST00000545968.5:c.1961G>A ENSP00000442795.1:p.Arg654His