Canonical Allele Identifier: CA599374223

Gene: MYBPC3

Linked Data

• dbSNP Id: rs369671269
• gnomAD v2: 11-47364782-C-G
• gnomAD v3: 11-47343231-C-G
• gnomAD v4: 11-47343231-C-G
• MyVariant Identifiers: chr11:g.47364782C>G (hg19) ; chr11:g.47343231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343231C>G , CM000673.2:g.47343231C>G	GRCh38
NC_000011.9:g.47364782C>G , CM000673.1:g.47364782C>G	GRCh37
NC_000011.8:g.47321358C>G	NCBI36
NG_007667.1:g.14472G>C , LRG_386:g.14472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1226+29G>C MANE Select	ENSP00000442795.1:n.1226+29G>C
ENST00000256993.8:c.1224-83G>C	ENSP00000256993.5:n.1224-83G>C
ENST00000399249.6:c.1226+29G>C	ENSP00000382193.2:n.1226+29G>C
ENST00000544791.1:c.1226+29G>C	ENSP00000444259.1:n.1226+29G>C
ENST00000545968.5:c.1226+29G>C	ENSP00000442795.1:n.1226+29G>C
NM_000256.3:c.1226+29G>C , LRG_386t1:c.1226+29G>C MANE Select	NP_000247.2:n.1226+29G>C
XM_011520117.1:c.1208+29G>C	XP_011518419.1:n.1208+29G>C
XM_011520118.1:c.1226+29G>C	XP_011518420.1:n.1226+29G>C