Canonical Allele Identifier: CA599058484

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1459611884
• gnomAD v2: 11-47359450-A-C
• gnomAD v3: 11-47337899-A-C
• gnomAD v4: 11-47337899-A-C
• COSMIC: COSN25337174
• MyVariant Identifiers: chr11:g.47359450A>C (hg19) ; chr11:g.47337899A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337899A>C , CM000673.2:g.47337899A>C	GRCh38
NC_000011.9:g.47359450A>C , CM000673.1:g.47359450A>C	GRCh37
NC_000011.8:g.47316026A>C	NCBI36
NG_007667.1:g.19804T>G , LRG_386:g.19804T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-105T>G MANE Select	ENSP00000442795.1:n.2309-105T>G
ENST00000256993.8:c.2309-105T>G	ENSP00000256993.5:n.2309-105T>G
ENST00000399249.6:c.2309-105T>G	ENSP00000382193.2:n.2309-105T>G
ENST00000544791.1:c.2309-105T>G	ENSP00000444259.1:n.2309-105T>G
ENST00000545968.5:c.2309-105T>G	ENSP00000442795.1:n.2309-105T>G
NM_000256.3:c.2309-105T>G , LRG_386t1:c.2309-105T>G MANE Select	NP_000247.2:n.2309-105T>G
XM_011520117.1:c.2291-105T>G	XP_011518419.1:n.2291-105T>G
XM_011520118.1:c.2228-105T>G	XP_011518420.1:n.2228-105T>G