Canonical Allele Identifier: CA221697376

Gene: MYBPC3

Linked Data

• dbSNP Id: rs3021118
• gnomAD v4: 11-47343413-G-T
• MyVariant Identifiers: chr11:g.47364964G>T (hg19) ; chr11:g.47343413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343413G>T , CM000673.2:g.47343413G>T	GRCh38
NC_000011.9:g.47364964G>T , CM000673.1:g.47364964G>T	GRCh37
NC_000011.8:g.47321540G>T	NCBI36
NG_007667.1:g.14290C>A , LRG_386:g.14290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1223+79C>A MANE Select	ENSP00000442795.1:n.1223+79C>A
ENST00000256993.8:c.1223+79C>A	ENSP00000256993.5:n.1223+79C>A
ENST00000399249.6:c.1223+79C>A	ENSP00000382193.2:n.1223+79C>A
ENST00000544791.1:c.1223+79C>A	ENSP00000444259.1:n.1223+79C>A
ENST00000545968.5:c.1223+79C>A	ENSP00000442795.1:n.1223+79C>A
NM_000256.3:c.1223+79C>A , LRG_386t1:c.1223+79C>A MANE Select	NP_000247.2:n.1223+79C>A
XM_011520117.1:c.1205+79C>A	XP_011518419.1:n.1205+79C>A
XM_011520118.1:c.1223+79C>A	XP_011518420.1:n.1223+79C>A