Canonical Allele Identifier: CA009918
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42511
ClinVar RCV Id: RCV000158343 RCV000555457
dbSNP Id: rs397515891
gnomAD v4: 11-47343264-T-C
MyVariant Identifiers: chr11:g.47364815T>C (hg19) chr11:g.47343264T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343264T>C , CM000673.2:g.47343264T>C GRCh38
NC_000011.9:g.47364815T>C , CM000673.1:g.47364815T>C GRCh37
NC_000011.8:g.47321391T>C NCBI36
NG_007667.1:g.14439A>G , LRG_386:g.14439A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1224-2A>G MANE Select ENSP00000442795.1:n.1224-2A>G
ENST00000256993.8:c.1224-116A>G ENSP00000256993.5:n.1224-116A>G
ENST00000399249.6:c.1224-2A>G ENSP00000382193.2:n.1224-2A>G
ENST00000544791.1:c.1224-2A>G ENSP00000444259.1:n.1224-2A>G
ENST00000545968.5:c.1224-2A>G ENSP00000442795.1:n.1224-2A>G
NM_000256.3:c.1224-2A>G , LRG_386t1:c.1224-2A>G MANE Select NP_000247.2:n.1224-2A>G
XM_011520117.1:c.1206-2A>G XP_011518419.1:n.1206-2A>G
XM_011520118.1:c.1224-2A>G XP_011518420.1:n.1224-2A>G
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