Canonical Allele Identifier: CA221693576

Gene: MYBPC3

Linked Data

• dbSNP Id: rs892911124
• gnomAD v2: 11-47362373-G-T
• gnomAD v3: 11-47340822-G-T
• gnomAD v4: 11-47340822-G-T
• MyVariant Identifiers: chr11:g.47362373G>T (hg19) ; chr11:g.47340822G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47340822G>T , CM000673.2:g.47340822G>T	GRCh38
NC_000011.9:g.47362373G>T , CM000673.1:g.47362373G>T	GRCh37
NC_000011.8:g.47318949G>T	NCBI36
NG_007667.1:g.16881C>A , LRG_386:g.16881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1927+181C>A MANE Select	ENSP00000442795.1:n.1927+181C>A
ENST00000256993.8:c.1927+181C>A	ENSP00000256993.5:n.1927+181C>A
ENST00000399249.6:c.1927+181C>A	ENSP00000382193.2:n.1927+181C>A
ENST00000544791.1:c.1927+181C>A	ENSP00000444259.1:n.1927+181C>A
ENST00000545968.5:c.1927+181C>A	ENSP00000442795.1:n.1927+181C>A
NM_000256.3:c.1927+181C>A , LRG_386t1:c.1927+181C>A MANE Select	NP_000247.2:n.1927+181C>A
XM_011520117.1:c.1909+181C>A	XP_011518419.1:n.1909+181C>A
XM_011520118.1:c.1927+181C>A	XP_011518420.1:n.1927+181C>A