Canonical Allele Identifier: CA2574816010
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337621-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337621A>G , CM000673.2:g.47337621A>G GRCh38
NC_000011.9:g.47359172A>G , CM000673.1:g.47359172A>G GRCh37
NC_000011.8:g.47315748A>G NCBI36
NG_007667.1:g.20082T>C , LRG_386:g.20082T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2414-42T>C MANE Select ENSP00000442795.1:n.2414-42T>C
ENST00000256993.8:c.2414-42T>C ENSP00000256993.5:n.2414-42T>C
ENST00000399249.6:c.2414-42T>C ENSP00000382193.2:n.2414-42T>C
ENST00000544791.1:c.2413+69T>C ENSP00000444259.1:n.2413+69T>C
ENST00000545968.5:c.2414-42T>C ENSP00000442795.1:n.2414-42T>C
NM_000256.3:c.2414-42T>C , LRG_386t1:c.2414-42T>C MANE Select NP_000247.2:n.2414-42T>C
XM_011520117.1:c.2396-42T>C XP_011518419.1:n.2396-42T>C
XM_011520118.1:c.2333-42T>C XP_011518420.1:n.2333-42T>C
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