Canonical Allele Identifier: CA014648
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42735
ClinVar RCV Id: RCV002482961 RCV003390723
dbSNP Id: rs397516037
ExAC: 11:47353740 G / A
gnomAD v2: 11-47353740-G-A
gnomAD v4: 11-47332189-G-A
MyVariant Identifiers: chr11:g.47353740G>A (hg19) chr11:g.47332189G>A (hg38)
PubMed: PMID:11499719 PMID:12974739 PMID:15519027 PMID:16199542 PMID:16715312 PMID:18403758 PMID:18409188 PMID:18957093 PMID:21985754 PMID:24510615 PMID:25031304 PMID:25351510 PMID:27532257 PMID:27600940 PMID:28615295
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332189G>A , CM000673.2:g.47332189G>A GRCh38
NC_000011.9:g.47353740G>A , CM000673.1:g.47353740G>A GRCh37
NC_000011.8:g.47310316G>A NCBI36
NG_007667.1:g.25514C>T , LRG_386:g.25514C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3697C>T MANE Select ENSP00000442795.1:p.Gln1233Ter
ENST00000256993.8:c.3697C>T ENSP00000256993.5:p.Gln1233Ter
ENST00000399249.6:c.3697C>T ENSP00000382193.2:p.Gln1233Ter
ENST00000545968.5:c.3697C>T ENSP00000442795.1:p.Gln1233Ter
NM_000256.3:c.3697C>T , LRG_386t1:c.3697C>T MANE Select NP_000247.2:p.Gln1233Ter
XM_011520117.1:c.3679C>T XP_011518419.1:p.Gln1227Ter
XM_011520118.1:c.3616C>T XP_011518420.1:p.Gln1206Ter
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