Canonical Allele Identifier: CA474220913
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47346295-C-T
COSMIC: COSM5448178 COSM5448179
MyVariant Identifiers: chr11:g.47367846C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346295C>T , CM000673.2:g.47346295C>T GRCh38
NC_000011.9:g.47367846C>T , CM000673.1:g.47367846C>T GRCh37
NC_000011.8:g.47324422C>T NCBI36
NG_007667.1:g.11408G>A , LRG_386:g.11408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1002G>A MANE Select ENSP00000442795.1:p.Glu334=
ENST00000256993.8:c.1002G>A ENSP00000256993.5:p.Glu334=
ENST00000399249.6:c.1002G>A ENSP00000382193.2:p.Glu334=
ENST00000544791.1:c.1002G>A ENSP00000444259.1:p.Glu334=
ENST00000545968.5:c.1002G>A ENSP00000442795.1:p.Glu334=
NM_000256.3:c.1002G>A , LRG_386t1:c.1002G>A MANE Select NP_000247.2:p.Glu334=
XM_011520117.1:c.984G>A XP_011518419.1:p.Glu328=
XM_011520118.1:c.1002G>A XP_011518420.1:p.Glu334=
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