Canonical Allele Identifier: CA474429482

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2027253
• ClinVar RCV Id: RCV002889422
• dbSNP Id: rs1486640299
• gnomAD v2: 11-47364455-C-T
• MyVariant Identifiers: chr11:g.47364455C>T (hg19) ; chr11:g.47342904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342904C>T , CM000673.2:g.47342904C>T	GRCh38
NC_000011.9:g.47364455C>T , CM000673.1:g.47364455C>T	GRCh37
NC_000011.8:g.47321031C>T	NCBI36
NG_007667.1:g.14799G>A , LRG_386:g.14799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1383G>A MANE Select	ENSP00000442795.1:p.Glu461=
ENST00000256993.8:c.1383G>A	ENSP00000256993.5:p.Glu461=
ENST00000399249.6:c.1383G>A	ENSP00000382193.2:p.Glu461=
ENST00000544791.1:c.1383G>A	ENSP00000444259.1:p.Glu461=
ENST00000545968.5:c.1383G>A	ENSP00000442795.1:p.Glu461=
NM_000256.3:c.1383G>A , LRG_386t1:c.1383G>A MANE Select	NP_000247.2:p.Glu461=
XM_011520117.1:c.1365G>A	XP_011518419.1:p.Glu455=
XM_011520118.1:c.1383G>A	XP_011518420.1:p.Glu461=