Canonical Allele Identifier: CA474221288

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47347680-C-A
• MyVariant Identifiers: chr11:g.47369231C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47347680C>A , CM000673.2:g.47347680C>A	GRCh38
NC_000011.9:g.47369231C>A , CM000673.1:g.47369231C>A	GRCh37
NC_000011.8:g.47325807C>A	NCBI36
NG_007667.1:g.10023G>T , LRG_386:g.10023G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.822G>T MANE Select	ENSP00000442795.1:p.Thr274=
ENST00000256993.8:c.822G>T	ENSP00000256993.5:p.Thr274=
ENST00000399249.6:c.822G>T	ENSP00000382193.2:p.Thr274=
ENST00000544791.1:c.822G>T	ENSP00000444259.1:p.Thr274=
ENST00000545968.5:c.822G>T	ENSP00000442795.1:p.Thr274=
NM_000256.3:c.822G>T , LRG_386t1:c.822G>T MANE Select	NP_000247.2:p.Thr274=
XM_011520117.1:c.822G>T	XP_011518419.1:p.Thr274=
XM_011520118.1:c.822G>T	XP_011518420.1:p.Thr274=