Canonical Allele Identifier: CA012456

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42631
• ClinVar RCV Id: RCV000035499 ; RCV000766354 ; RCV001180861 ; RCV004018749 ; RCV003996199
• dbSNP Id: rs376936056
• ExAC: 11:47359026 C / T
• gnomAD v2: 11-47359026-C-T
• gnomAD v4: 11-47337475-C-T
• COSMIC: COSM1739823 ; COSM3307703
• MyVariant Identifiers: chr11:g.47359026C>T (hg19) ; chr11:g.47337475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337475C>T , CM000673.2:g.47337475C>T	GRCh38
NC_000011.9:g.47359026C>T , CM000673.1:g.47359026C>T	GRCh37
NC_000011.8:g.47315602C>T	NCBI36
NG_007667.1:g.20228G>A , LRG_386:g.20228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2518G>A MANE Select	ENSP00000442795.1:p.Val840Met
ENST00000256993.8:c.2518G>A	ENSP00000256993.5:p.Val840Met
ENST00000399249.6:c.2518G>A	ENSP00000382193.2:p.Val840Met
ENST00000544791.1:c.*23G>A	ENSP00000444259.1:n.*23G>A
ENST00000545968.5:c.2518G>A	ENSP00000442795.1:p.Val840Met
NM_000256.3:c.2518G>A , LRG_386t1:c.2518G>A MANE Select	NP_000247.2:p.Val840Met
XM_011520117.1:c.2500G>A	XP_011518419.1:p.Val834Met
XM_011520118.1:c.2437G>A	XP_011518420.1:p.Val813Met