Canonical Allele Identifier: CA380314758
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1728307
ClinVar RCV Id: RCV002320939 RCV003099246
dbSNP Id: rs1250336519
gnomAD v2: 11-47355138-C-T
gnomAD v3: 11-47333587-C-T
gnomAD v4: 11-47333587-C-T
MyVariant Identifiers: chr11:g.47355138C>T (hg19) chr11:g.47333587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333587C>T , CM000673.2:g.47333587C>T GRCh38
NC_000011.9:g.47355138C>T , CM000673.1:g.47355138C>T GRCh37
NC_000011.8:g.47311714C>T NCBI36
NG_007667.1:g.24116G>A , LRG_386:g.24116G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3160G>A MANE Select ENSP00000442795.1:p.Asp1054Asn
ENST00000256993.8:c.3160G>A ENSP00000256993.5:p.Asp1054Asn
ENST00000399249.6:c.3160G>A ENSP00000382193.2:p.Asp1054Asn
ENST00000545968.5:c.3160G>A ENSP00000442795.1:p.Asp1054Asn
NM_000256.3:c.3160G>A , LRG_386t1:c.3160G>A MANE Select NP_000247.2:p.Asp1054Asn
XM_011520117.1:c.3142G>A XP_011518419.1:p.Asp1048Asn
XM_011520118.1:c.3079G>A XP_011518420.1:p.Asp1027Asn
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