Canonical Allele Identifier: CA2499220978

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1180864
• ClinVar RCV Id: RCV001538089
• dbSNP Id: rs1178447240
• gnomAD v4: 11-47343283-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343283T>C , CM000673.2:g.47343283T>C	GRCh38
NC_000011.9:g.47364834T>C , CM000673.1:g.47364834T>C	GRCh37
NC_000011.8:g.47321410T>C	NCBI36
NG_007667.1:g.14420A>G , LRG_386:g.14420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1224-21A>G MANE Select	ENSP00000442795.1:n.1224-21A>G
ENST00000256993.8:c.1224-135A>G	ENSP00000256993.5:n.1224-135A>G
ENST00000399249.6:c.1224-21A>G	ENSP00000382193.2:n.1224-21A>G
ENST00000544791.1:c.1224-21A>G	ENSP00000444259.1:n.1224-21A>G
ENST00000545968.5:c.1224-21A>G	ENSP00000442795.1:n.1224-21A>G
NM_000256.3:c.1224-21A>G , LRG_386t1:c.1224-21A>G MANE Select	NP_000247.2:n.1224-21A>G
XM_011520117.1:c.1206-21A>G	XP_011518419.1:n.1206-21A>G
XM_011520118.1:c.1224-21A>G	XP_011518420.1:n.1224-21A>G