Canonical Allele Identifier: CA014283

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181010
• ClinVar RCV Id: RCV000158240 ; RCV000628981 ; RCV002453540
• dbSNP Id: rs730880592
• gnomAD v4: 11-47332705-G-C
• MyVariant Identifiers: chr11:g.47354256G>C (hg19) ; chr11:g.47332705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332705G>C , CM000673.2:g.47332705G>C	GRCh38
NC_000011.9:g.47354256G>C , CM000673.1:g.47354256G>C	GRCh37
NC_000011.8:g.47310832G>C	NCBI36
NG_007667.1:g.24998C>G , LRG_386:g.24998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3491-3C>G MANE Select	ENSP00000442795.1:n.3491-3C>G
ENST00000256993.8:c.3491-3C>G	ENSP00000256993.5:n.3491-3C>G
ENST00000399249.6:c.3491-3C>G	ENSP00000382193.2:n.3491-3C>G
ENST00000545968.5:c.3491-3C>G	ENSP00000442795.1:n.3491-3C>G
NM_000256.3:c.3491-3C>G , LRG_386t1:c.3491-3C>G MANE Select	NP_000247.2:n.3491-3C>G
XM_011520117.1:c.3473-3C>G	XP_011518419.1:n.3473-3C>G
XM_011520118.1:c.3410-3C>G	XP_011518420.1:n.3410-3C>G