Canonical Allele Identifier: CA042264
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 926927
ClinVar RCV Id: RCV001189834 RCV004010389
dbSNP Id: rs775464343
ExAC: 11:47367774 A / T
gnomAD v2: 11-47367774-A-T
gnomAD v3: 11-47346223-A-T
gnomAD v4: 11-47346223-A-T
MyVariant Identifiers: chr11:g.47367774A>T (hg19) chr11:g.47346223A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346223A>T , CM000673.2:g.47346223A>T GRCh38
NC_000011.9:g.47367774A>T , CM000673.1:g.47367774A>T GRCh37
NC_000011.8:g.47324350A>T NCBI36
NG_007667.1:g.11480T>A , LRG_386:g.11480T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1074T>A MANE Select ENSP00000442795.1:p.Asp358Glu
ENST00000256993.8:c.1074T>A ENSP00000256993.5:p.Asp358Glu
ENST00000399249.6:c.1074T>A ENSP00000382193.2:p.Asp358Glu
ENST00000544791.1:c.1074T>A ENSP00000444259.1:p.Asp358Glu
ENST00000545968.5:c.1074T>A ENSP00000442795.1:p.Asp358Glu
NM_000256.3:c.1074T>A , LRG_386t1:c.1074T>A MANE Select NP_000247.2:p.Asp358Glu
XM_011520117.1:c.1056T>A XP_011518419.1:p.Asp352Glu
XM_011520118.1:c.1074T>A XP_011518420.1:p.Asp358Glu
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