Canonical Allele Identifier: CA011444

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 180957
• ClinVar RCV Id: RCV000158129
• dbSNP Id: rs730880557
• gnomAD v4: 11-47341134-T-G
• MyVariant Identifiers: chr11:g.47362685T>G (hg19) ; chr11:g.47341134T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341134T>G , CM000673.2:g.47341134T>G	GRCh38
NC_000011.9:g.47362685T>G , CM000673.1:g.47362685T>G	GRCh37
NC_000011.8:g.47319261T>G	NCBI36
NG_007667.1:g.16569A>C , LRG_386:g.16569A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1897+4A>C MANE Select	ENSP00000442795.1:n.1897+4A>C
ENST00000256993.8:c.1897+4A>C	ENSP00000256993.5:n.1897+4A>C
ENST00000399249.6:c.1897+4A>C	ENSP00000382193.2:n.1897+4A>C
ENST00000544791.1:c.1897+4A>C	ENSP00000444259.1:n.1897+4A>C
ENST00000545968.5:c.1897+4A>C	ENSP00000442795.1:n.1897+4A>C
NM_000256.3:c.1897+4A>C , LRG_386t1:c.1897+4A>C MANE Select	NP_000247.2:n.1897+4A>C
XM_011520117.1:c.1879+4A>C	XP_011518419.1:n.1879+4A>C
XM_011520118.1:c.1897+4A>C	XP_011518420.1:n.1897+4A>C