Canonical Allele Identifier: CA011370
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 164095
ClinVar RCV Id: RCV000151111 RCV000788736 RCV003486668
dbSNP Id: rs397515932
gnomAD v4: 11-47341166-G-T
MyVariant Identifiers: chr11:g.47362717G>T (hg19) chr11:g.47341166G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341166G>T , CM000673.2:g.47341166G>T GRCh38
NC_000011.9:g.47362717G>T , CM000673.1:g.47362717G>T GRCh37
NC_000011.8:g.47319293G>T NCBI36
NG_007667.1:g.16537C>A , LRG_386:g.16537C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1869C>A MANE Select ENSP00000442795.1:p.Cys623Ter
ENST00000256993.8:c.1869C>A ENSP00000256993.5:p.Cys623Ter
ENST00000399249.6:c.1869C>A ENSP00000382193.2:p.Cys623Ter
ENST00000544791.1:c.1869C>A ENSP00000444259.1:p.Cys623Ter
ENST00000545968.5:c.1869C>A ENSP00000442795.1:p.Cys623Ter
NM_000256.3:c.1869C>A , LRG_386t1:c.1869C>A MANE Select NP_000247.2:p.Cys623Ter
XM_011520117.1:c.1851C>A XP_011518419.1:p.Cys617Ter
XM_011520118.1:c.1869C>A XP_011518420.1:p.Cys623Ter
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