Canonical Allele Identifier: CA010464
Gene: MYBPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47342718C>T
GRCh37 chr11:g.47364269C>T
Revel Score:
ENST00000545968 (MANE Select) 0.435
ENST00000399249 0.435
ENST00000256993 0.435
gnomAD v2:
11:47364269 C / T
gnomAD v3:
11:47342718 C / T
gnomAD v4:
chr11-47342718-C-T
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00008876 (AMR)
Exomes Max Group AF 0.00002374 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342718C>T , CM000673.2:g.47342718C>T GRCh38
NC_000011.9:g.47364269C>T , CM000673.1:g.47364269C>T GRCh37
NC_000011.8:g.47320845C>T NCBI36
NG_007667.1:g.14985G>A , LRG_386:g.14985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1484G>A MANE Select ENSP00000442795.1:p.Arg495Gln
ENST00000256993.8:c.1484G>A ENSP00000256993.5:p.Arg495Gln
ENST00000399249.6:c.1484G>A ENSP00000382193.2:p.Arg495Gln
ENST00000544791.1:c.1484G>A ENSP00000444259.1:p.Arg495Gln
ENST00000545968.5:c.1484G>A ENSP00000442795.1:p.Arg495Gln
NM_000256.3:c.1484G>A , LRG_386t1:c.1484G>A MANE Select NP_000247.2:p.Arg495Gln
XM_011520117.1:c.1466G>A XP_011518419.1:p.Arg489Gln
XM_011520118.1:c.1484G>A XP_011518420.1:p.Arg495Gln
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