Canonical Allele Identifier: CA078745
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 925709
ClinVar RCV Id: RCV001187797
dbSNP Id: rs770514536
ExAC: 11:47359062 C / G
gnomAD v2: 11-47359062-C-G
gnomAD v4: 11-47337511-C-G
MyVariant Identifiers: chr11:g.47359062C>G (hg19) chr11:g.47337511C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337511C>G , CM000673.2:g.47337511C>G GRCh38
NC_000011.9:g.47359062C>G , CM000673.1:g.47359062C>G GRCh37
NC_000011.8:g.47315638C>G NCBI36
NG_007667.1:g.20192G>C , LRG_386:g.20192G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2482G>C MANE Select ENSP00000442795.1:p.Glu828Gln
ENST00000256993.8:c.2482G>C ENSP00000256993.5:p.Glu828Gln
ENST00000399249.6:c.2482G>C ENSP00000382193.2:p.Glu828Gln
ENST00000544791.1:c.2414G>C ENSP00000444259.1:p.Gly805Ala
ENST00000545968.5:c.2482G>C ENSP00000442795.1:p.Glu828Gln
NM_000256.3:c.2482G>C , LRG_386t1:c.2482G>C MANE Select NP_000247.2:p.Glu828Gln
XM_011520117.1:c.2464G>C XP_011518419.1:p.Glu822Gln
XM_011520118.1:c.2401G>C XP_011518420.1:p.Glu801Gln
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