Canonical Allele Identifier: CA380314074
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333217-G-T
MyVariant Identifiers: chr11:g.47354768G>T (hg19) chr11:g.47333217G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333217G>T , CM000673.2:g.47333217G>T GRCh38
NC_000011.9:g.47354768G>T , CM000673.1:g.47354768G>T GRCh37
NC_000011.8:g.47311344G>T NCBI36
NG_007667.1:g.24486C>A , LRG_386:g.24486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3307C>A MANE Select ENSP00000442795.1:p.Gln1103Lys
ENST00000256993.8:c.3307C>A ENSP00000256993.5:p.Gln1103Lys
ENST00000399249.6:c.3307C>A ENSP00000382193.2:p.Gln1103Lys
ENST00000545968.5:c.3307C>A ENSP00000442795.1:p.Gln1103Lys
NM_000256.3:c.3307C>A , LRG_386t1:c.3307C>A MANE Select NP_000247.2:p.Gln1103Lys
XM_011520117.1:c.3289C>A XP_011518419.1:p.Gln1097Lys
XM_011520118.1:c.3226C>A XP_011518420.1:p.Gln1076Lys
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