Canonical Allele Identifier: CA078282
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 665200
ClinVar RCV Id: RCV002261232
dbSNP Id: rs754902004
ExAC: 11:47363559 C / A
gnomAD v2: 11-47363559-C-A
gnomAD v4: 11-47342008-C-A
MyVariant Identifiers: chr11:g.47363559C>A (hg19) chr11:g.47342008C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342008C>A , CM000673.2:g.47342008C>A GRCh38
NC_000011.9:g.47363559C>A , CM000673.1:g.47363559C>A GRCh37
NC_000011.8:g.47320135C>A NCBI36
NG_007667.1:g.15695G>T , LRG_386:g.15695G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1773G>T MANE Select ENSP00000442795.1:p.Lys591Asn
ENST00000256993.8:c.1773G>T ENSP00000256993.5:p.Lys591Asn
ENST00000399249.6:c.1773G>T ENSP00000382193.2:p.Lys591Asn
ENST00000544791.1:c.1773G>T ENSP00000444259.1:p.Lys591Asn
ENST00000545968.5:c.1773G>T ENSP00000442795.1:p.Lys591Asn
NM_000256.3:c.1773G>T , LRG_386t1:c.1773G>T MANE Select NP_000247.2:p.Lys591Asn
XM_011520117.1:c.1755G>T XP_011518419.1:p.Lys585Asn
XM_011520118.1:c.1773G>T XP_011518420.1:p.Lys591Asn
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