Canonical Allele Identifier: CA221690874

Gene: MYBPC3

Linked Data

• dbSNP Id: rs912770368
• gnomAD v2: 11-47360998-C-G
• gnomAD v3: 11-47339447-C-G
• gnomAD v4: 11-47339447-C-G
• MyVariant Identifiers: chr11:g.47360998C>G (hg19) ; chr11:g.47339447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339447C>G , CM000673.2:g.47339447C>G	GRCh38
NC_000011.9:g.47360998C>G , CM000673.1:g.47360998C>G	GRCh37
NC_000011.8:g.47317574C>G	NCBI36
NG_007667.1:g.18256G>C , LRG_386:g.18256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2068-43G>C MANE Select	ENSP00000442795.1:n.2068-43G>C
ENST00000256993.8:c.2068-43G>C	ENSP00000256993.5:n.2068-43G>C
ENST00000399249.6:c.2068-43G>C	ENSP00000382193.2:n.2068-43G>C
ENST00000544791.1:c.2068-43G>C	ENSP00000444259.1:n.2068-43G>C
ENST00000545968.5:c.2068-43G>C	ENSP00000442795.1:n.2068-43G>C
NM_000256.3:c.2068-43G>C , LRG_386t1:c.2068-43G>C MANE Select	NP_000247.2:n.2068-43G>C
XM_011520117.1:c.2050-43G>C	XP_011518419.1:n.2050-43G>C
XM_011520118.1:c.2067+204G>C	XP_011518420.1:n.2067+204G>C