Canonical Allele Identifier: CA079559
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1665476
ClinVar RCV Id: RCV002184123
dbSNP Id: rs764528392
ExAC: 11:47353610 G / A
gnomAD v2: 11-47353610-G-A
gnomAD v3: 11-47332059-G-A
gnomAD v4: 11-47332059-G-A
MyVariant Identifiers: chr11:g.47353610G>A (hg19) chr11:g.47332059G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332059G>A , CM000673.2:g.47332059G>A GRCh38
NC_000011.9:g.47353610G>A , CM000673.1:g.47353610G>A GRCh37
NC_000011.8:g.47310186G>A NCBI36
NG_007667.1:g.25644C>T , LRG_386:g.25644C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3814+13C>T MANE Select ENSP00000442795.1:n.3814+13C>T
ENST00000256993.8:c.3814+13C>T ENSP00000256993.5:n.3814+13C>T
ENST00000399249.6:c.3814+13C>T ENSP00000382193.2:n.3814+13C>T
ENST00000545968.5:c.3814+13C>T ENSP00000442795.1:n.3814+13C>T
NM_000256.3:c.3814+13C>T , LRG_386t1:c.3814+13C>T MANE Select NP_000247.2:n.3814+13C>T
XM_011520117.1:c.3796+13C>T XP_011518419.1:n.3796+13C>T
XM_011520118.1:c.3733+13C>T XP_011518420.1:n.3733+13C>T
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