Canonical Allele Identifier: CA1969336137
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095890207
gnomAD v4: 11-47342803-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342803C>T , CM000673.2:g.47342803C>T GRCh38
NC_000011.9:g.47364354C>T , CM000673.1:g.47364354C>T GRCh37
NC_000011.8:g.47320930C>T NCBI36
NG_007667.1:g.14900G>A , LRG_386:g.14900G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1457+27G>A MANE Select ENSP00000442795.1:n.1457+27G>A
ENST00000256993.8:c.1457+27G>A ENSP00000256993.5:n.1457+27G>A
ENST00000399249.6:c.1457+27G>A ENSP00000382193.2:n.1457+27G>A
ENST00000544791.1:c.1457+27G>A ENSP00000444259.1:n.1457+27G>A
ENST00000545968.5:c.1457+27G>A ENSP00000442795.1:n.1457+27G>A
NM_000256.3:c.1457+27G>A , LRG_386t1:c.1457+27G>A MANE Select NP_000247.2:n.1457+27G>A
XM_011520117.1:c.1439+27G>A XP_011518419.1:n.1439+27G>A
XM_011520118.1:c.1457+27G>A XP_011518420.1:n.1457+27G>A
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