Canonical Allele Identifier: CA599374193

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095900455
• gnomAD v2: 11-47372740-G-GC
• gnomAD v4: 11-47351189-G-GC
• MyVariant Identifiers: chr11:g.47372741_47372742insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351193dup , CM000673.2:g.47351193dup	GRCh38
NC_000011.9:g.47372744dup , CM000673.1:g.47372744dup	GRCh37
NC_000011.8:g.47329320dup	NCBI36
NG_007667.1:g.6513dup , LRG_386:g.6513dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.292+49dup MANE Select	ENSP00000442795.1:n.292+49dup
ENST00000256993.8:c.292+49dup	ENSP00000256993.5:n.292+49dup
ENST00000399249.6:c.292+49dup	ENSP00000382193.2:n.292+49dup
ENST00000544791.1:c.292+49dup	ENSP00000444259.1:n.292+49dup
ENST00000545968.5:c.292+49dup	ENSP00000442795.1:n.292+49dup
NM_000256.3:c.292+49dup , LRG_386t1:c.292+49dup MANE Select	NP_000247.2:n.292+49dup
XM_011520117.1:c.292+49dup	XP_011518419.1:n.292+49dup
XM_011520118.1:c.292+49dup	XP_011518420.1:n.292+49dup