Canonical Allele Identifier: CA380327212

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2884034
• ClinVar RCV Id: RCV003748160
• dbSNP Id: rs1317056454
• gnomAD v4: 11-47343074-G-C
• MyVariant Identifiers: chr11:g.47364625G>C (hg19) ; chr11:g.47343074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343074G>C , CM000673.2:g.47343074G>C	GRCh38
NC_000011.9:g.47364625G>C , CM000673.1:g.47364625G>C	GRCh37
NC_000011.8:g.47321201G>C	NCBI36
NG_007667.1:g.14629C>G , LRG_386:g.14629C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1298C>G MANE Select	ENSP00000442795.1:p.Ala433Gly
ENST00000256993.8:c.1298C>G	ENSP00000256993.5:p.Ala433Gly
ENST00000399249.6:c.1298C>G	ENSP00000382193.2:p.Ala433Gly
ENST00000544791.1:c.1298C>G	ENSP00000444259.1:p.Ala433Gly
ENST00000545968.5:c.1298C>G	ENSP00000442795.1:p.Ala433Gly
NM_000256.3:c.1298C>G , LRG_386t1:c.1298C>G MANE Select	NP_000247.2:p.Ala433Gly
XM_011520117.1:c.1280C>G	XP_011518419.1:p.Ala427Gly
XM_011520118.1:c.1298C>G	XP_011518420.1:p.Ala433Gly