Canonical Allele Identifier: CA221697351

Gene: MYBPC3

Linked Data

• dbSNP Id: rs984612996
• gnomAD v2: 11-47364950-C-A
• gnomAD v3: 11-47343399-C-A
• gnomAD v4: 11-47343399-C-A
• MyVariant Identifiers: chr11:g.47364950C>A (hg19) ; chr11:g.47343399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343399C>A , CM000673.2:g.47343399C>A	GRCh38
NC_000011.9:g.47364950C>A , CM000673.1:g.47364950C>A	GRCh37
NC_000011.8:g.47321526C>A	NCBI36
NG_007667.1:g.14304G>T , LRG_386:g.14304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1223+93G>T MANE Select	ENSP00000442795.1:n.1223+93G>T
ENST00000256993.8:c.1223+93G>T	ENSP00000256993.5:n.1223+93G>T
ENST00000399249.6:c.1223+93G>T	ENSP00000382193.2:n.1223+93G>T
ENST00000544791.1:c.1223+93G>T	ENSP00000444259.1:n.1223+93G>T
ENST00000545968.5:c.1223+93G>T	ENSP00000442795.1:n.1223+93G>T
NM_000256.3:c.1223+93G>T , LRG_386t1:c.1223+93G>T MANE Select	NP_000247.2:n.1223+93G>T
XM_011520117.1:c.1205+93G>T	XP_011518419.1:n.1205+93G>T
XM_011520118.1:c.1223+93G>T	XP_011518420.1:n.1223+93G>T