Canonical Allele Identifier: CA009805

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 164128
• ClinVar RCV Id: RCV001836739 ; RCV002433651 ; RCV002478426 ; RCV003486669
• dbSNP Id: rs727503208
• ExAC: 11:47365143 C / T
• gnomAD v2: 11-47365143-C-T
• gnomAD v3: 11-47343592-C-T
• gnomAD v4: 11-47343592-C-T
• MyVariant Identifiers: chr11:g.47365143C>T (hg19) ; chr11:g.47343592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343592C>T , CM000673.2:g.47343592C>T	GRCh38
NC_000011.9:g.47365143C>T , CM000673.1:g.47365143C>T	GRCh37
NC_000011.8:g.47321719C>T	NCBI36
NG_007667.1:g.14111G>A , LRG_386:g.14111G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1123G>A MANE Select	ENSP00000442795.1:p.Val375Met
ENST00000256993.8:c.1123G>A	ENSP00000256993.5:p.Val375Met
ENST00000399249.6:c.1123G>A	ENSP00000382193.2:p.Val375Met
ENST00000544791.1:c.1123G>A	ENSP00000444259.1:p.Val375Met
ENST00000545968.5:c.1123G>A	ENSP00000442795.1:p.Val375Met
NM_000256.3:c.1123G>A , LRG_386t1:c.1123G>A MANE Select	NP_000247.2:p.Val375Met
XM_011520117.1:c.1105G>A	XP_011518419.1:p.Val369Met
XM_011520118.1:c.1123G>A	XP_011518420.1:p.Val375Met