Canonical Allele Identifier: CA010806
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8608
dbSNP Id: rs121909374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342578C>G , CM000673.2:g.47342578C>G GRCh38
NC_000011.9:g.47364129C>G , CM000673.1:g.47364129C>G GRCh37
NC_000011.8:g.47320705C>G NCBI36
NG_007667.1:g.15125G>C , LRG_386:g.15125G>C

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.1624G>C , LRG_386t1:c.1624G>C NP_000247.2:p.Glu542Gln
XM_011520117.1:c.1606G>C XP_011518419.1:p.Glu536Gln
XM_011520118.1:c.1624G>C XP_011518420.1:p.Glu542Gln
ENST00000256993.8:c.1624G>C ENSP00000256993.5:p.Glu542Gln
ENST00000399249.6:c.1624G>C ENSP00000382193.2:p.Glu542Gln
ENST00000544791.1:c.1624G>C ENSP00000444259.1:p.Glu542Gln
ENST00000545968.5:c.1624G>C ENSP00000442795.1:p.Glu542Gln