Canonical Allele Identifier: CA380334166

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2866523
• ClinVar RCV Id: RCV003747942
• MyVariant Identifiers: chr11:g.47369975C>G (hg19) ; chr11:g.47348424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47348424C>G , CM000673.2:g.47348424C>G	GRCh38
NC_000011.9:g.47369975C>G , CM000673.1:g.47369975C>G	GRCh37
NC_000011.8:g.47326551C>G	NCBI36
NG_007667.1:g.9279G>C , LRG_386:g.9279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.772G>C MANE Select	ENSP00000442795.1:p.Glu258Gln
ENST00000256993.8:c.772G>C	ENSP00000256993.5:p.Glu258Gln
ENST00000399249.6:c.772G>C	ENSP00000382193.2:p.Glu258Gln
ENST00000544791.1:c.772G>C	ENSP00000444259.1:p.Glu258Gln
ENST00000545968.5:c.772G>C	ENSP00000442795.1:p.Glu258Gln
NM_000256.3:c.772G>C , LRG_386t1:c.772G>C MANE Select	NP_000247.2:p.Glu258Gln
XM_011520117.1:c.772G>C	XP_011518419.1:p.Glu258Gln
XM_011520118.1:c.772G>C	XP_011518420.1:p.Glu258Gln