Canonical Allele Identifier: CA599374209

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1276787059
• gnomAD v2: 11-47359155-T-C
• gnomAD v3: 11-47337604-T-C
• gnomAD v4: 11-47337604-T-C
• COSMIC: COSN4892015
• MyVariant Identifiers: chr11:g.47359155T>C (hg19) ; chr11:g.47337604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337604T>C , CM000673.2:g.47337604T>C	GRCh38
NC_000011.9:g.47359155T>C , CM000673.1:g.47359155T>C	GRCh37
NC_000011.8:g.47315731T>C	NCBI36
NG_007667.1:g.20099A>G , LRG_386:g.20099A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2414-25A>G MANE Select	ENSP00000442795.1:n.2414-25A>G
ENST00000256993.8:c.2414-25A>G	ENSP00000256993.5:n.2414-25A>G
ENST00000399249.6:c.2414-25A>G	ENSP00000382193.2:n.2414-25A>G
ENST00000544791.1:c.2413+86A>G	ENSP00000444259.1:n.2413+86A>G
ENST00000545968.5:c.2414-25A>G	ENSP00000442795.1:n.2414-25A>G
NM_000256.3:c.2414-25A>G , LRG_386t1:c.2414-25A>G MANE Select	NP_000247.2:n.2414-25A>G
XM_011520117.1:c.2396-25A>G	XP_011518419.1:n.2396-25A>G
XM_011520118.1:c.2333-25A>G	XP_011518420.1:n.2333-25A>G