Canonical Allele Identifier: CA2613392437
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47346080-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346080G>C , CM000673.2:g.47346080G>C GRCh38
NC_000011.9:g.47367631G>C , CM000673.1:g.47367631G>C GRCh37
NC_000011.8:g.47324207G>C NCBI36
NG_007667.1:g.11623C>G , LRG_386:g.11623C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1090+127C>G MANE Select ENSP00000442795.1:n.1090+127C>G
ENST00000256993.8:c.1090+127C>G ENSP00000256993.5:n.1090+127C>G
ENST00000399249.6:c.1090+127C>G ENSP00000382193.2:n.1090+127C>G
ENST00000544791.1:c.1090+127C>G ENSP00000444259.1:n.1090+127C>G
ENST00000545968.5:c.1090+127C>G ENSP00000442795.1:n.1090+127C>G
NM_000256.3:c.1090+127C>G , LRG_386t1:c.1090+127C>G MANE Select NP_000247.2:n.1090+127C>G
XM_011520117.1:c.1072+127C>G XP_011518419.1:n.1072+127C>G
XM_011520118.1:c.1090+127C>G XP_011518420.1:n.1090+127C>G
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