Canonical Allele Identifier: CA380333996

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47347904-C-A
• MyVariant Identifiers: chr11:g.47369455C>A (hg19) ; chr11:g.47347904C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47347904C>A , CM000673.2:g.47347904C>A	GRCh38
NC_000011.9:g.47369455C>A , CM000673.1:g.47369455C>A	GRCh37
NC_000011.8:g.47326031C>A	NCBI36
NG_007667.1:g.9799G>T , LRG_386:g.9799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.774G>T MANE Select	ENSP00000442795.1:p.Glu258Asp
ENST00000256993.8:c.774G>T	ENSP00000256993.5:p.Glu258Asp
ENST00000399249.6:c.774G>T	ENSP00000382193.2:p.Glu258Asp
ENST00000544791.1:c.774G>T	ENSP00000444259.1:p.Glu258Asp
ENST00000545968.5:c.774G>T	ENSP00000442795.1:p.Glu258Asp
NM_000256.3:c.774G>T , LRG_386t1:c.774G>T MANE Select	NP_000247.2:p.Glu258Asp
XM_011520117.1:c.774G>T	XP_011518419.1:p.Glu258Asp
XM_011520118.1:c.774G>T	XP_011518420.1:p.Glu258Asp