Canonical Allele Identifier: CA474221332
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1760452
ClinVar RCV Id: RCV002409671 RCV003108058
dbSNP Id: rs1269188508
gnomAD v2: 11-47369455-C-T
gnomAD v3: 11-47347904-C-T
gnomAD v4: 11-47347904-C-T
MyVariant Identifiers: chr11:g.47369455C>T (hg19) chr11:g.47347904C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347904C>T , CM000673.2:g.47347904C>T GRCh38
NC_000011.9:g.47369455C>T , CM000673.1:g.47369455C>T GRCh37
NC_000011.8:g.47326031C>T NCBI36
NG_007667.1:g.9799G>A , LRG_386:g.9799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.774G>A MANE Select ENSP00000442795.1:p.Glu258=
ENST00000256993.8:c.774G>A ENSP00000256993.5:p.Glu258=
ENST00000399249.6:c.774G>A ENSP00000382193.2:p.Glu258=
ENST00000544791.1:c.774G>A ENSP00000444259.1:p.Glu258=
ENST00000545968.5:c.774G>A ENSP00000442795.1:p.Glu258=
NM_000256.3:c.774G>A , LRG_386t1:c.774G>A MANE Select NP_000247.2:p.Glu258=
XM_011520117.1:c.774G>A XP_011518419.1:p.Glu258=
XM_011520118.1:c.774G>A XP_011518420.1:p.Glu258=
Search 100 bp 5'
Search 100 bp 3'