Canonical Allele Identifier: CA16619330
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423792
ClinVar RCV Id: RCV000484452 RCV001180116
dbSNP Id: rs1064796634
gnomAD v4: 11-47332078-C-A
MyVariant Identifiers: chr11:g.47353629C>A (hg19) chr11:g.47332078C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332078C>A , CM000673.2:g.47332078C>A GRCh38
NC_000011.9:g.47353629C>A , CM000673.1:g.47353629C>A GRCh37
NC_000011.8:g.47310205C>A NCBI36
NG_007667.1:g.25625G>T , LRG_386:g.25625G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3808G>T MANE Select ENSP00000442795.1:p.Val1270Leu
ENST00000256993.8:c.3808G>T ENSP00000256993.5:p.Val1270Leu
ENST00000399249.6:c.3808G>T ENSP00000382193.2:p.Val1270Leu
ENST00000545968.5:c.3808G>T ENSP00000442795.1:p.Val1270Leu
NM_000256.3:c.3808G>T , LRG_386t1:c.3808G>T MANE Select NP_000247.2:p.Val1270Leu
XM_011520117.1:c.3790G>T XP_011518419.1:p.Val1264Leu
XM_011520118.1:c.3727G>T XP_011518420.1:p.Val1243Leu
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