Canonical Allele Identifier: CA2573053509
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329390
ClinVar RCV Id: RCV001799433
dbSNP Id: rs2142855549
gnomAD v4: 11-47337582-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337582G>A , CM000673.2:g.47337582G>A GRCh38
NC_000011.9:g.47359133G>A , CM000673.1:g.47359133G>A GRCh37
NC_000011.8:g.47315709G>A NCBI36
NG_007667.1:g.20121C>T , LRG_386:g.20121C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2414-3C>T MANE Select ENSP00000442795.1:n.2414-3C>T
ENST00000256993.8:c.2414-3C>T ENSP00000256993.5:n.2414-3C>T
ENST00000399249.6:c.2414-3C>T ENSP00000382193.2:n.2414-3C>T
ENST00000544791.1:c.2414-71C>T ENSP00000444259.1:n.2414-71C>T
ENST00000545968.5:c.2414-3C>T ENSP00000442795.1:n.2414-3C>T
NM_000256.3:c.2414-3C>T , LRG_386t1:c.2414-3C>T MANE Select NP_000247.2:n.2414-3C>T
XM_011520117.1:c.2396-3C>T XP_011518419.1:n.2396-3C>T
XM_011520118.1:c.2333-3C>T XP_011518420.1:n.2333-3C>T
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