Canonical Allele Identifier: CA380331272
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044849
ClinVar RCV Id: RCV001349164
dbSNP Id: rs1351784136
MyVariant Identifiers: chr11:g.47367816G>T (hg19) chr11:g.47346265G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346265G>T , CM000673.2:g.47346265G>T GRCh38
NC_000011.9:g.47367816G>T , CM000673.1:g.47367816G>T GRCh37
NC_000011.8:g.47324392G>T NCBI36
NG_007667.1:g.11438C>A , LRG_386:g.11438C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1032C>A MANE Select ENSP00000442795.1:p.Asp344Glu
ENST00000256993.8:c.1032C>A ENSP00000256993.5:p.Asp344Glu
ENST00000399249.6:c.1032C>A ENSP00000382193.2:p.Asp344Glu
ENST00000544791.1:c.1032C>A ENSP00000444259.1:p.Asp344Glu
ENST00000545968.5:c.1032C>A ENSP00000442795.1:p.Asp344Glu
NM_000256.3:c.1032C>A , LRG_386t1:c.1032C>A MANE Select NP_000247.2:p.Asp344Glu
XM_011520117.1:c.1014C>A XP_011518419.1:p.Asp338Glu
XM_011520118.1:c.1032C>A XP_011518420.1:p.Asp344Glu
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