Canonical Allele Identifier: CA051564
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 915583
dbSNP Id: rs770777166

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351251C>A , CM000673.2:g.47351251C>A GRCh38
NC_000011.9:g.47372802C>A , CM000673.1:g.47372802C>A GRCh37
NC_000011.8:g.47329378C>A NCBI36
NG_007667.1:g.6452G>T , LRG_386:g.6452G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.280G>T MANE Select ENSP00000442795.1:p.Val94Phe
ENST00000256993.8:c.280G>T ENSP00000256993.5:p.Val94Phe
ENST00000399249.6:c.280G>T ENSP00000382193.2:p.Val94Phe
ENST00000544791.1:c.280G>T ENSP00000444259.1:p.Val94Phe
ENST00000545968.5:c.280G>T ENSP00000442795.1:p.Val94Phe
NM_000256.3:c.280G>T , LRG_386t1:c.280G>T MANE Select NP_000247.2:p.Val94Phe
XM_011520117.1:c.280G>T XP_011518419.1:p.Val94Phe
XM_011520118.1:c.280G>T XP_011518420.1:p.Val94Phe