Canonical Allele Identifier: CA1139659385
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 992400
ClinVar RCV Id: RCV001280842 RCV001799060
dbSNP Id: rs2095878223
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332573del , CM000673.2:g.47332573del GRCh38
NC_000011.9:g.47354124del , CM000673.1:g.47354124del GRCh37
NC_000011.8:g.47310700del NCBI36
NG_007667.1:g.25130del , LRG_386:g.25130del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3620del MANE Select ENSP00000442795.1:p.Ser1207ThrfsTer30
ENST00000256993.8:c.3620del ENSP00000256993.5:p.Ser1207ThrfsTer30
ENST00000399249.6:c.3620del ENSP00000382193.2:p.Ser1207ThrfsTer30
ENST00000545968.5:c.3620del ENSP00000442795.1:p.Ser1207ThrfsTer30
NM_000256.3:c.3620del , LRG_386t1:c.3620del MANE Select NP_000247.2:p.Ser1207ThrfsTer30
XM_011520117.1:c.3602del XP_011518419.1:p.Ser1201ThrfsTer30
XM_011520118.1:c.3539del XP_011518420.1:p.Ser1180ThrfsTer30
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