Canonical Allele Identifier: CA2574815730
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47332758-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332758C>T , CM000673.2:g.47332758C>T GRCh38
NC_000011.9:g.47354309C>T , CM000673.1:g.47354309C>T GRCh37
NC_000011.8:g.47310885C>T NCBI36
NG_007667.1:g.24945G>A , LRG_386:g.24945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3491-56G>A MANE Select ENSP00000442795.1:n.3491-56G>A
ENST00000256993.8:c.3491-56G>A ENSP00000256993.5:n.3491-56G>A
ENST00000399249.6:c.3491-56G>A ENSP00000382193.2:n.3491-56G>A
ENST00000545968.5:c.3491-56G>A ENSP00000442795.1:n.3491-56G>A
NM_000256.3:c.3491-56G>A , LRG_386t1:c.3491-56G>A MANE Select NP_000247.2:n.3491-56G>A
XM_011520117.1:c.3473-56G>A XP_011518419.1:n.3473-56G>A
XM_011520118.1:c.3410-56G>A XP_011518420.1:n.3410-56G>A
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