Canonical Allele Identifier: CA054809
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2060808
ClinVar RCV Id: RCV002938879
dbSNP Id: rs1255776478
gnomAD v4: 11-47332147-C-T
MyVariant Identifiers: chr11:g.47353698C>T (hg19) chr11:g.47332147C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332147C>T , CM000673.2:g.47332147C>T GRCh38
NC_000011.9:g.47353698C>T , CM000673.1:g.47353698C>T GRCh37
NC_000011.8:g.47310274C>T NCBI36
NG_007667.1:g.25556G>A , LRG_386:g.25556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3739G>A MANE Select ENSP00000442795.1:p.Asp1247Asn
ENST00000256993.8:c.3739G>A ENSP00000256993.5:p.Asp1247Asn
ENST00000399249.6:c.3739G>A ENSP00000382193.2:p.Asp1247Asn
ENST00000545968.5:c.3739G>A ENSP00000442795.1:p.Asp1247Asn
NM_000256.3:c.3739G>A , LRG_386t1:c.3739G>A MANE Select NP_000247.2:p.Asp1247Asn
XM_011520117.1:c.3721G>A XP_011518419.1:p.Asp1241Asn
XM_011520118.1:c.3658G>A XP_011518420.1:p.Asp1220Asn
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