Canonical Allele Identifier: CA474211846
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1327888169
gnomAD v2: 11-47353421-G-T
MyVariant Identifiers: chr11:g.47353421G>T (hg19) chr11:g.47331870G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47331870G>T , CM000673.2:g.47331870G>T GRCh38
NC_000011.9:g.47353421G>T , CM000673.1:g.47353421G>T GRCh37
NC_000011.8:g.47309997G>T NCBI36
NG_007667.1:g.25833C>A , LRG_386:g.25833C>A
NG_029462.1:g.67495G>T

Transcript Alleles

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