Canonical Allele Identifier: CA013793

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 8616
• ClinVar RCV Id: RCV000009147 ; RCV000158223 ; RCV000621059 ; RCV000628863 ; RCV002496311
• dbSNP Id: rs121909377
• gnomAD v2: 11-47354789-C-A
• gnomAD v3: 11-47333238-C-A
• gnomAD v4: 11-47333238-C-A
• MyVariant Identifiers: chr11:g.47354789C>A (hg19) ; chr11:g.47333238C>A (hg38)
• PubMed: PMID:7786104 ; PMID:10424815 ; PMID:12601548 ; PMID:12707239 ; PMID:24093860

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333238C>A , CM000673.2:g.47333238C>A	GRCh38
NC_000011.9:g.47354789C>A , CM000673.1:g.47354789C>A	GRCh37
NC_000011.8:g.47311365C>A	NCBI36
NG_007667.1:g.24465G>T , LRG_386:g.24465G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3286G>T MANE Select	ENSP00000442795.1:p.Glu1096Ter
ENST00000256993.8:c.3286G>T	ENSP00000256993.5:p.Glu1096Ter
ENST00000399249.6:c.3286G>T	ENSP00000382193.2:p.Glu1096Ter
ENST00000545968.5:c.3286G>T	ENSP00000442795.1:p.Glu1096Ter
NM_000256.3:c.3286G>T , LRG_386t1:c.3286G>T MANE Select	NP_000247.2:p.Glu1096Ter
XM_011520117.1:c.3268G>T	XP_011518419.1:p.Glu1090Ter
XM_011520118.1:c.3205G>T	XP_011518420.1:p.Glu1069Ter