Canonical Allele Identifier: CA380318396
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 430507
ClinVar RCV Id: RCV000492871 RCV001182998 RCV001856981 RCV003329164
dbSNP Id: rs397515964
gnomAD v4: 11-47337543-C-A
MyVariant Identifiers: chr11:g.47359094C>A (hg19) chr11:g.47337543C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337543C>A , CM000673.2:g.47337543C>A GRCh38
NC_000011.9:g.47359094C>A , CM000673.1:g.47359094C>A GRCh37
NC_000011.8:g.47315670C>A NCBI36
NG_007667.1:g.20160G>T , LRG_386:g.20160G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2450G>T MANE Select ENSP00000442795.1:p.Arg817Leu
ENST00000256993.8:c.2450G>T ENSP00000256993.5:p.Arg817Leu
ENST00000399249.6:c.2450G>T ENSP00000382193.2:p.Arg817Leu
ENST00000544791.1:c.2414-32G>T ENSP00000444259.1:n.2414-32G>T
ENST00000545968.5:c.2450G>T ENSP00000442795.1:p.Arg817Leu
NM_000256.3:c.2450G>T , LRG_386t1:c.2450G>T MANE Select NP_000247.2:p.Arg817Leu
XM_011520117.1:c.2432G>T XP_011518419.1:p.Arg811Leu
XM_011520118.1:c.2369G>T XP_011518420.1:p.Arg790Leu
Search 100 bp 5'
Search 100 bp 3'