Canonical Allele Identifier: CA915948149

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 766199
• ClinVar RCV Id: RCV000944704
• dbSNP Id: rs1595843781
• gnomAD v4: 11-47337584-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337584C>G , CM000673.2:g.47337584C>G	GRCh38
NC_000011.9:g.47359135C>G , CM000673.1:g.47359135C>G	GRCh37
NC_000011.8:g.47315711C>G	NCBI36
NG_007667.1:g.20119G>C , LRG_386:g.20119G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2414-5G>C MANE Select	ENSP00000442795.1:n.2414-5G>C
ENST00000256993.8:c.2414-5G>C	ENSP00000256993.5:n.2414-5G>C
ENST00000399249.6:c.2414-5G>C	ENSP00000382193.2:n.2414-5G>C
ENST00000544791.1:c.2414-73G>C	ENSP00000444259.1:n.2414-73G>C
ENST00000545968.5:c.2414-5G>C	ENSP00000442795.1:n.2414-5G>C
NM_000256.3:c.2414-5G>C , LRG_386t1:c.2414-5G>C MANE Select	NP_000247.2:n.2414-5G>C
XM_011520117.1:c.2396-5G>C	XP_011518419.1:n.2396-5G>C
XM_011520118.1:c.2333-5G>C	XP_011518420.1:n.2333-5G>C