Canonical Allele Identifier: CA937665866
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1286507992
gnomAD v3: 11-47333110-G-A
gnomAD v4: 11-47333110-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333110G>A , CM000673.2:g.47333110G>A GRCh38
NC_000011.9:g.47354661G>A , CM000673.1:g.47354661G>A GRCh37
NC_000011.8:g.47311237G>A NCBI36
NG_007667.1:g.24593C>T , LRG_386:g.24593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+84C>T MANE Select ENSP00000442795.1:n.3330+84C>T
ENST00000256993.8:c.3330+84C>T ENSP00000256993.5:n.3330+84C>T
ENST00000399249.6:c.3330+84C>T ENSP00000382193.2:n.3330+84C>T
ENST00000545968.5:c.3330+84C>T ENSP00000442795.1:n.3330+84C>T
NM_000256.3:c.3330+84C>T , LRG_386t1:c.3330+84C>T MANE Select NP_000247.2:n.3330+84C>T
XM_011520117.1:c.3312+84C>T XP_011518419.1:n.3312+84C>T
XM_011520118.1:c.3249+84C>T XP_011518420.1:n.3249+84C>T
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