Canonical Allele Identifier: CA2613393075
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333147-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333147C>A , CM000673.2:g.47333147C>A GRCh38
NC_000011.9:g.47354698C>A , CM000673.1:g.47354698C>A GRCh37
NC_000011.8:g.47311274C>A NCBI36
NG_007667.1:g.24556G>T , LRG_386:g.24556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+47G>T MANE Select ENSP00000442795.1:n.3330+47G>T
ENST00000256993.8:c.3330+47G>T ENSP00000256993.5:n.3330+47G>T
ENST00000399249.6:c.3330+47G>T ENSP00000382193.2:n.3330+47G>T
ENST00000545968.5:c.3330+47G>T ENSP00000442795.1:n.3330+47G>T
NM_000256.3:c.3330+47G>T , LRG_386t1:c.3330+47G>T MANE Select NP_000247.2:n.3330+47G>T
XM_011520117.1:c.3312+47G>T XP_011518419.1:n.3312+47G>T
XM_011520118.1:c.3249+47G>T XP_011518420.1:n.3249+47G>T
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