Canonical Allele Identifier: CA599374208

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2806369
• ClinVar RCV Id: RCV003749382
• dbSNP Id: rs1031998651
• gnomAD v2: 11-47359149-C-A
• gnomAD v4: 11-47337598-C-A
• MyVariant Identifiers: chr11:g.47359149C>A (hg19) ; chr11:g.47337598C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337598C>A , CM000673.2:g.47337598C>A	GRCh38
NC_000011.9:g.47359149C>A , CM000673.1:g.47359149C>A	GRCh37
NC_000011.8:g.47315725C>A	NCBI36
NG_007667.1:g.20105G>T , LRG_386:g.20105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2414-19G>T MANE Select	ENSP00000442795.1:n.2414-19G>T
ENST00000256993.8:c.2414-19G>T	ENSP00000256993.5:n.2414-19G>T
ENST00000399249.6:c.2414-19G>T	ENSP00000382193.2:n.2414-19G>T
ENST00000544791.1:c.2414-87G>T	ENSP00000444259.1:n.2414-87G>T
ENST00000545968.5:c.2414-19G>T	ENSP00000442795.1:n.2414-19G>T
NM_000256.3:c.2414-19G>T , LRG_386t1:c.2414-19G>T MANE Select	NP_000247.2:n.2414-19G>T
XM_011520117.1:c.2396-19G>T	XP_011518419.1:n.2396-19G>T
XM_011520118.1:c.2333-19G>T	XP_011518420.1:n.2333-19G>T