Canonical Allele Identifier: CA937668939

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1231036648
• gnomAD v3: 11-47337919-G-T
• gnomAD v4: 11-47337919-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337919G>T , CM000673.2:g.47337919G>T	GRCh38
NC_000011.9:g.47359470G>T , CM000673.1:g.47359470G>T	GRCh37
NC_000011.8:g.47316046G>T	NCBI36
NG_007667.1:g.19784C>A , LRG_386:g.19784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2309-125C>A MANE Select	ENSP00000442795.1:n.2309-125C>A
ENST00000256993.8:c.2309-125C>A	ENSP00000256993.5:n.2309-125C>A
ENST00000399249.6:c.2309-125C>A	ENSP00000382193.2:n.2309-125C>A
ENST00000544791.1:c.2309-125C>A	ENSP00000444259.1:n.2309-125C>A
ENST00000545968.5:c.2309-125C>A	ENSP00000442795.1:n.2309-125C>A
NM_000256.3:c.2309-125C>A , LRG_386t1:c.2309-125C>A MANE Select	NP_000247.2:n.2309-125C>A
XM_011520117.1:c.2291-125C>A	XP_011518419.1:n.2291-125C>A
XM_011520118.1:c.2228-125C>A	XP_011518420.1:n.2228-125C>A