Canonical Allele Identifier: CA2613392576

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47332809-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332809A>G , CM000673.2:g.47332809A>G	GRCh38
NC_000011.9:g.47354360A>G , CM000673.1:g.47354360A>G	GRCh37
NC_000011.8:g.47310936A>G	NCBI36
NG_007667.1:g.24894T>C , LRG_386:g.24894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3490+5T>C MANE Select	ENSP00000442795.1:n.3490+5T>C
ENST00000256993.8:c.3490+5T>C	ENSP00000256993.5:n.3490+5T>C
ENST00000399249.6:c.3490+5T>C	ENSP00000382193.2:n.3490+5T>C
ENST00000545968.5:c.3490+5T>C	ENSP00000442795.1:n.3490+5T>C
NM_000256.3:c.3490+5T>C , LRG_386t1:c.3490+5T>C MANE Select	NP_000247.2:n.3490+5T>C
XM_011520117.1:c.3472+5T>C	XP_011518419.1:n.3472+5T>C
XM_011520118.1:c.3409+5T>C	XP_011518420.1:n.3409+5T>C