Canonical Allele Identifier: CA078685
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 381042
ClinVar RCV Id: RCV000429167 RCV001187599 RCV001476771
dbSNP Id: rs202088839
ExAC: 11:47359245 G / T
gnomAD v2: 11-47359245-G-T
gnomAD v3: 11-47337694-G-T
gnomAD v4: 11-47337694-G-T
MyVariant Identifiers: chr11:g.47359245G>T (hg19) chr11:g.47337694G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337694G>T , CM000673.2:g.47337694G>T GRCh38
NC_000011.9:g.47359245G>T , CM000673.1:g.47359245G>T GRCh37
NC_000011.8:g.47315821G>T NCBI36
NG_007667.1:g.20009C>A , LRG_386:g.20009C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2409C>A MANE Select ENSP00000442795.1:p.Ile803=
ENST00000256993.8:c.2409C>A ENSP00000256993.5:p.Ile803=
ENST00000399249.6:c.2409C>A ENSP00000382193.2:p.Ile803=
ENST00000544791.1:c.2409C>A ENSP00000444259.1:p.Ile803=
ENST00000545968.5:c.2409C>A ENSP00000442795.1:p.Ile803=
NM_000256.3:c.2409C>A , LRG_386t1:c.2409C>A MANE Select NP_000247.2:p.Ile803=
XM_011520117.1:c.2391C>A XP_011518419.1:p.Ile797=
XM_011520118.1:c.2328C>A XP_011518420.1:p.Ile776=
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