Canonical Allele Identifier: CA380329125

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095891378
• gnomAD v3: 11-47343579-T-G
• gnomAD v4: 11-47343579-T-G
• MyVariant Identifiers: chr11:g.47365130T>G (hg19) ; chr11:g.47343579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343579T>G , CM000673.2:g.47343579T>G	GRCh38
NC_000011.9:g.47365130T>G , CM000673.1:g.47365130T>G	GRCh37
NC_000011.8:g.47321706T>G	NCBI36
NG_007667.1:g.14124A>C , LRG_386:g.14124A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1136A>C MANE Select	ENSP00000442795.1:p.His379Pro
ENST00000256993.8:c.1136A>C	ENSP00000256993.5:p.His379Pro
ENST00000399249.6:c.1136A>C	ENSP00000382193.2:p.His379Pro
ENST00000544791.1:c.1136A>C	ENSP00000444259.1:p.His379Pro
ENST00000545968.5:c.1136A>C	ENSP00000442795.1:p.His379Pro
NM_000256.3:c.1136A>C , LRG_386t1:c.1136A>C MANE Select	NP_000247.2:p.His379Pro
XM_011520117.1:c.1118A>C	XP_011518419.1:p.His373Pro
XM_011520118.1:c.1136A>C	XP_011518420.1:p.His379Pro