Canonical Allele Identifier: CA012837
Gene: MYBPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47335928C>T
GRCh37 chr11:g.47357479C>T
Revel Score:
ENST00000545968 (MANE Select) 0.214
ENST00000399249 0.214
ENST00000256993 0.214
gnomAD v2:
11:47357479 C / T
gnomAD v3:
11:47335928 C / T
gnomAD v4:
chr11-47335928-C-T
Joint Max Group AF 0.00557915 (NFE)
Genomes Max Group AF 0.00686081 (NFE)
Exomes Max Group AF 0.00546894 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335928C>T , CM000673.2:g.47335928C>T GRCh38
NC_000011.9:g.47357479C>T , CM000673.1:g.47357479C>T GRCh37
NC_000011.8:g.47314055C>T NCBI36
NG_007667.1:g.21775G>A , LRG_386:g.21775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2686G>A MANE Select ENSP00000442795.1:p.Val896Met
ENST00000256993.8:c.2686G>A ENSP00000256993.5:p.Val896Met
ENST00000399249.6:c.2686G>A ENSP00000382193.2:p.Val896Met
ENST00000544791.1:c.*191G>A ENSP00000444259.1:n.*191G>A
ENST00000545968.5:c.2686G>A ENSP00000442795.1:p.Val896Met
NM_000256.3:c.2686G>A , LRG_386t1:c.2686G>A MANE Select NP_000247.2:p.Val896Met
XM_011520117.1:c.2668G>A XP_011518419.1:p.Val890Met
XM_011520118.1:c.2605G>A XP_011518420.1:p.Val869Met
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