Canonical Allele Identifier: CA2574816207

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1310054838
• gnomAD v4: 11-47343324-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343336_47343337dup , CM000673.2:g.47343336_47343337dup	GRCh38
NC_000011.9:g.47364887_47364888dup , CM000673.1:g.47364887_47364888dup	GRCh37
NC_000011.8:g.47321463_47321464dup	NCBI36
NG_007667.1:g.14377_14378dup , LRG_386:g.14377_14378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1224-64_1224-63dup MANE Select	ENSP00000442795.1:n.1224-64_1224-63dup
ENST00000256993.8:c.1223+166_1223+167dup	ENSP00000256993.5:n.1223+166_1223+167dup
ENST00000399249.6:c.1224-64_1224-63dup	ENSP00000382193.2:n.1224-64_1224-63dup
ENST00000544791.1:c.1224-64_1224-63dup	ENSP00000444259.1:n.1224-64_1224-63dup
ENST00000545968.5:c.1224-64_1224-63dup	ENSP00000442795.1:n.1224-64_1224-63dup
NM_000256.3:c.1224-64_1224-63dup , LRG_386t1:c.1224-64_1224-63dup MANE Select	NP_000247.2:n.1224-64_1224-63dup
XM_011520117.1:c.1206-64_1206-63dup	XP_011518419.1:n.1206-64_1206-63dup
XM_011520118.1:c.1224-64_1224-63dup	XP_011518420.1:n.1224-64_1224-63dup