Canonical Allele Identifier: CA015883

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42791
• ClinVar RCV Id: RCV000158313 ; RCV000168401 ; RCV000249601 ; RCV000845451 ; RCV001176299 ; RCV001375643 ; RCV001787823 ; RCV001807754 ; RCV002288533 ; RCV004549435
• dbSNP Id: rs397516073
• ExAC: 11:47369407 C / T
• gnomAD v2: 11-47369407-C-T
• gnomAD v3: 11-47347856-C-T
• gnomAD v4: 11-47347856-C-T
• MyVariant Identifiers: chr11:g.47369407C>T (hg19) ; chr11:g.47347856C>T (hg38)
• PubMed: PMID:9562578 ; PMID:11499718 ; PMID:11499719 ; PMID:15519027 ; PMID:18533079 ; PMID:21959974 ; PMID:24510615 ; PMID:25525159 ; PMID:26914223 ; PMID:27532257 ; PMID:28615295

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47347856C>T , CM000673.2:g.47347856C>T	GRCh38
NC_000011.9:g.47369407C>T , CM000673.1:g.47369407C>T	GRCh37
NC_000011.8:g.47325983C>T	NCBI36
NG_007667.1:g.9847G>A , LRG_386:g.9847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.821+1G>A MANE Select	ENSP00000442795.1:n.821+1G>A
ENST00000256993.8:c.821+1G>A	ENSP00000256993.5:n.821+1G>A
ENST00000399249.6:c.821+1G>A	ENSP00000382193.2:n.821+1G>A
ENST00000544791.1:c.821+1G>A	ENSP00000444259.1:n.821+1G>A
ENST00000545968.5:c.821+1G>A	ENSP00000442795.1:n.821+1G>A
NM_000256.3:c.821+1G>A , LRG_386t1:c.821+1G>A MANE Select	NP_000247.2:n.821+1G>A
XM_011520117.1:c.821+1G>A	XP_011518419.1:n.821+1G>A
XM_011520118.1:c.821+1G>A	XP_011518420.1:n.821+1G>A