Canonical Allele Identifier: CA380318631
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 919921
ClinVar RCV Id: RCV001178392
dbSNP Id: rs1273374175
gnomAD v3: 11-47337704-C-T
gnomAD v4: 11-47337704-C-T
MyVariant Identifiers: chr11:g.47359255C>T (hg19) chr11:g.47337704C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337704C>T , CM000673.2:g.47337704C>T GRCh38
NC_000011.9:g.47359255C>T , CM000673.1:g.47359255C>T GRCh37
NC_000011.8:g.47315831C>T NCBI36
NG_007667.1:g.19999G>A , LRG_386:g.19999G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2399G>A MANE Select ENSP00000442795.1:p.Gly800Glu
ENST00000256993.8:c.2399G>A ENSP00000256993.5:p.Gly800Glu
ENST00000399249.6:c.2399G>A ENSP00000382193.2:p.Gly800Glu
ENST00000544791.1:c.2399G>A ENSP00000444259.1:p.Gly800Glu
ENST00000545968.5:c.2399G>A ENSP00000442795.1:p.Gly800Glu
NM_000256.3:c.2399G>A , LRG_386t1:c.2399G>A MANE Select NP_000247.2:p.Gly800Glu
XM_011520117.1:c.2381G>A XP_011518419.1:p.Gly794Glu
XM_011520118.1:c.2318G>A XP_011518420.1:p.Gly773Glu
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Search 100 bp 3'