Canonical Allele Identifier: CA380314473
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 927199
ClinVar RCV Id: RCV001190317 RCV003748334
dbSNP Id: rs1445937499
gnomAD v2: 11-47354863-T-A
gnomAD v4: 11-47333312-T-A
MyVariant Identifiers: chr11:g.47354863T>A (hg19) chr11:g.47333312T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333312T>A , CM000673.2:g.47333312T>A GRCh38
NC_000011.9:g.47354863T>A , CM000673.1:g.47354863T>A GRCh37
NC_000011.8:g.47311439T>A NCBI36
NG_007667.1:g.24391A>T , LRG_386:g.24391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3212A>T MANE Select ENSP00000442795.1:p.Asp1071Val
ENST00000256993.8:c.3212A>T ENSP00000256993.5:p.Asp1071Val
ENST00000399249.6:c.3212A>T ENSP00000382193.2:p.Asp1071Val
ENST00000545968.5:c.3212A>T ENSP00000442795.1:p.Asp1071Val
NM_000256.3:c.3212A>T , LRG_386t1:c.3212A>T MANE Select NP_000247.2:p.Asp1071Val
XM_011520117.1:c.3194A>T XP_011518419.1:p.Asp1065Val
XM_011520118.1:c.3131A>T XP_011518420.1:p.Asp1044Val
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