Canonical Allele Identifier: CA658797649

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 506638
• ClinVar RCV Id: RCV000604771 ; RCV002358675
• dbSNP Id: rs886048383
• gnomAD v4: 11-47352652-A-G
• MyVariant Identifiers: chr11:g.47374203A>G (hg19) ; chr11:g.47352652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47352652A>G , CM000673.2:g.47352652A>G	GRCh38
NC_000011.9:g.47374203A>G , CM000673.1:g.47374203A>G	GRCh37
NC_000011.8:g.47330779A>G	NCBI36
NG_007667.1:g.5051T>C , LRG_386:g.5051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.-5T>C MANE Select	ENSP00000442795.1:n.-5T>C
ENST00000256993.8:c.-5T>C	ENSP00000256993.5:n.-5T>C
ENST00000399249.6:c.-5T>C	ENSP00000382193.2:n.-5T>C
ENST00000544791.1:c.-5T>C	ENSP00000444259.1:n.-5T>C
ENST00000545968.5:c.-5T>C	ENSP00000442795.1:n.-5T>C
NM_000256.3:c.-5T>C , LRG_386t1:c.-5T>C MANE Select	NP_000247.2:n.-5T>C
XM_011520117.1:c.-5T>C	XP_011518419.1:n.-5T>C
XM_011520118.1:c.-5T>C	XP_011518420.1:n.-5T>C