Canonical Allele Identifier: CA474429352

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1577736
• ClinVar RCV Id: RCV002088138
• dbSNP Id: rs727503188
• gnomAD v4: 11-47337544-G-T
• MyVariant Identifiers: chr11:g.47359095G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337544G>T , CM000673.2:g.47337544G>T	GRCh38
NC_000011.9:g.47359095G>T , CM000673.1:g.47359095G>T	GRCh37
NC_000011.8:g.47315671G>T	NCBI36
NG_007667.1:g.20159C>A , LRG_386:g.20159C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2449C>A MANE Select	ENSP00000442795.1:p.Arg817=
ENST00000256993.8:c.2449C>A	ENSP00000256993.5:p.Arg817=
ENST00000399249.6:c.2449C>A	ENSP00000382193.2:p.Arg817=
ENST00000544791.1:c.2414-33C>A	ENSP00000444259.1:n.2414-33C>A
ENST00000545968.5:c.2449C>A	ENSP00000442795.1:p.Arg817=
NM_000256.3:c.2449C>A , LRG_386t1:c.2449C>A MANE Select	NP_000247.2:p.Arg817=
XM_011520117.1:c.2431C>A	XP_011518419.1:p.Arg811=
XM_011520118.1:c.2368C>A	XP_011518420.1:p.Arg790=