Canonical Allele Identifier: CA474429507

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2773743
• ClinVar RCV Id: RCV003532617
• gnomAD v4: 11-47343022-T-C
• MyVariant Identifiers: chr11:g.47364573T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343022T>C , CM000673.2:g.47343022T>C	GRCh38
NC_000011.9:g.47364573T>C , CM000673.1:g.47364573T>C	GRCh37
NC_000011.8:g.47321149T>C	NCBI36
NG_007667.1:g.14681A>G , LRG_386:g.14681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1350A>G MANE Select	ENSP00000442795.1:p.Lys450=
ENST00000256993.8:c.1350A>G	ENSP00000256993.5:p.Lys450=
ENST00000399249.6:c.1350A>G	ENSP00000382193.2:p.Lys450=
ENST00000544791.1:c.1350A>G	ENSP00000444259.1:p.Lys450=
ENST00000545968.5:c.1350A>G	ENSP00000442795.1:p.Lys450=
NM_000256.3:c.1350A>G , LRG_386t1:c.1350A>G MANE Select	NP_000247.2:p.Lys450=
XM_011520117.1:c.1332A>G	XP_011518419.1:p.Lys444=
XM_011520118.1:c.1350A>G	XP_011518420.1:p.Lys450=