Canonical Allele Identifier: CA014240

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181008
• ClinVar RCV Id: RCV000158238 ; RCV000628980 ; RCV000779061 ; RCV001375509
• dbSNP Id: rs397516020
• gnomAD v3: 11-47332813-C-A
• gnomAD v4: 11-47332813-C-A
• MyVariant Identifiers: chr11:g.47354364C>A (hg19) ; chr11:g.47332813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332813C>A , CM000673.2:g.47332813C>A	GRCh38
NC_000011.9:g.47354364C>A , CM000673.1:g.47354364C>A	GRCh37
NC_000011.8:g.47310940C>A	NCBI36
NG_007667.1:g.24890G>T , LRG_386:g.24890G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3490+1G>T MANE Select	ENSP00000442795.1:n.3490+1G>T
ENST00000256993.8:c.3490+1G>T	ENSP00000256993.5:n.3490+1G>T
ENST00000399249.6:c.3490+1G>T	ENSP00000382193.2:n.3490+1G>T
ENST00000545968.5:c.3490+1G>T	ENSP00000442795.1:n.3490+1G>T
NM_000256.3:c.3490+1G>T , LRG_386t1:c.3490+1G>T MANE Select	NP_000247.2:n.3490+1G>T
XM_011520117.1:c.3472+1G>T	XP_011518419.1:n.3472+1G>T
XM_011520118.1:c.3409+1G>T	XP_011518420.1:n.3409+1G>T