Canonical Allele Identifier: CA474429306
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 920451
ClinVar RCV Id: RCV001179208 RCV001487022
dbSNP Id: rs397515974
gnomAD v4: 11-47337452-G-A
MyVariant Identifiers: chr11:g.47359003G>A (hg19) chr11:g.47337452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337452G>A , CM000673.2:g.47337452G>A GRCh38
NC_000011.9:g.47359003G>A , CM000673.1:g.47359003G>A GRCh37
NC_000011.8:g.47315579G>A NCBI36
NG_007667.1:g.20251C>T , LRG_386:g.20251C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2541C>T MANE Select ENSP00000442795.1:p.Tyr847=
ENST00000256993.8:c.2541C>T ENSP00000256993.5:p.Tyr847=
ENST00000399249.6:c.2541C>T ENSP00000382193.2:p.Tyr847=
ENST00000544791.1:c.*46C>T ENSP00000444259.1:n.*46C>T
ENST00000545968.5:c.2541C>T ENSP00000442795.1:p.Tyr847=
NM_000256.3:c.2541C>T , LRG_386t1:c.2541C>T MANE Select NP_000247.2:p.Tyr847=
XM_011520117.1:c.2523C>T XP_011518419.1:p.Tyr841=
XM_011520118.1:c.2460C>T XP_011518420.1:p.Tyr820=
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