Canonical Allele Identifier: CA677001249
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs896818
gnomAD v3: 11-47343211-A-T
gnomAD v4: 11-47343211-A-T
MyVariant Identifiers: chr11:g.47364762A>T (hg19) chr11:g.47343211A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343211A>T , CM000673.2:g.47343211A>T GRCh38
NC_000011.9:g.47364762A>T , CM000673.1:g.47364762A>T GRCh37
NC_000011.8:g.47321338A>T NCBI36
NG_007667.1:g.14492T>A , LRG_386:g.14492T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1226+49T>A MANE Select ENSP00000442795.1:n.1226+49T>A
ENST00000256993.8:c.1224-63T>A ENSP00000256993.5:n.1224-63T>A
ENST00000399249.6:c.1226+49T>A ENSP00000382193.2:n.1226+49T>A
ENST00000544791.1:c.1226+49T>A ENSP00000444259.1:n.1226+49T>A
ENST00000545968.5:c.1226+49T>A ENSP00000442795.1:n.1226+49T>A
NM_000256.3:c.1226+49T>A , LRG_386t1:c.1226+49T>A MANE Select NP_000247.2:n.1226+49T>A
XM_011520117.1:c.1208+49T>A XP_011518419.1:n.1208+49T>A
XM_011520118.1:c.1226+49T>A XP_011518420.1:n.1226+49T>A
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