Canonical Allele Identifier: CA015857

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 161315
• ClinVar RCV Id: RCV000148690 ; RCV000412865 ; RCV000528899 ; RCV000617282 ; RCV000770378 ; RCV000988551 ; RCV001103316 ; RCV002498680
• dbSNP Id: rs373730381
• ExAC: 11:47369442 C / T
• gnomAD v2: 11-47369442-C-T
• gnomAD v3: 11-47347891-C-T
• gnomAD v4: 11-47347891-C-T
• MyVariant Identifiers: chr11:g.47369442C>T (hg19) ; chr11:g.47347891C>T (hg38)
• PubMed: PMID:15563892 ; PMID:23299917 ; PMID:24510615 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47347891C>T , CM000673.2:g.47347891C>T	GRCh38
NC_000011.9:g.47369442C>T , CM000673.1:g.47369442C>T	GRCh37
NC_000011.8:g.47326018C>T	NCBI36
NG_007667.1:g.9812G>A , LRG_386:g.9812G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.787G>A MANE Select	ENSP00000442795.1:p.Gly263Arg
ENST00000256993.8:c.787G>A	ENSP00000256993.5:p.Gly263Arg
ENST00000399249.6:c.787G>A	ENSP00000382193.2:p.Gly263Arg
ENST00000544791.1:c.787G>A	ENSP00000444259.1:p.Gly263Arg
ENST00000545968.5:c.787G>A	ENSP00000442795.1:p.Gly263Arg
NM_000256.3:c.787G>A , LRG_386t1:c.787G>A MANE Select	NP_000247.2:p.Gly263Arg
XM_011520117.1:c.787G>A	XP_011518419.1:p.Gly263Arg
XM_011520118.1:c.787G>A	XP_011518420.1:p.Gly263Arg