Canonical Allele Identifier: CA2613405659
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47343289-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343289T>G , CM000673.2:g.47343289T>G GRCh38
NC_000011.9:g.47364840T>G , CM000673.1:g.47364840T>G GRCh37
NC_000011.8:g.47321416T>G NCBI36
NG_007667.1:g.14414A>C , LRG_386:g.14414A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1224-27A>C MANE Select ENSP00000442795.1:n.1224-27A>C
ENST00000256993.8:c.1224-141A>C ENSP00000256993.5:n.1224-141A>C
ENST00000399249.6:c.1224-27A>C ENSP00000382193.2:n.1224-27A>C
ENST00000544791.1:c.1224-27A>C ENSP00000444259.1:n.1224-27A>C
ENST00000545968.5:c.1224-27A>C ENSP00000442795.1:n.1224-27A>C
NM_000256.3:c.1224-27A>C , LRG_386t1:c.1224-27A>C MANE Select NP_000247.2:n.1224-27A>C
XM_011520117.1:c.1206-27A>C XP_011518419.1:n.1206-27A>C
XM_011520118.1:c.1224-27A>C XP_011518420.1:n.1224-27A>C
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