Canonical Allele Identifier: CA078715

Gene: MYBPC3

Linked Data

• dbSNP Id: rs755532159
• ExAC: 11:47359145 G / T
• gnomAD v2: 11-47359145-G-T
• gnomAD v4: 11-47337594-G-T
• MyVariant Identifiers: chr11:g.47359145G>T (hg19) ; chr11:g.47337594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337594G>T , CM000673.2:g.47337594G>T	GRCh38
NC_000011.9:g.47359145G>T , CM000673.1:g.47359145G>T	GRCh37
NC_000011.8:g.47315721G>T	NCBI36
NG_007667.1:g.20109C>A , LRG_386:g.20109C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2414-15C>A MANE Select	ENSP00000442795.1:n.2414-15C>A
ENST00000256993.8:c.2414-15C>A	ENSP00000256993.5:n.2414-15C>A
ENST00000399249.6:c.2414-15C>A	ENSP00000382193.2:n.2414-15C>A
ENST00000544791.1:c.2414-83C>A	ENSP00000444259.1:n.2414-83C>A
ENST00000545968.5:c.2414-15C>A	ENSP00000442795.1:n.2414-15C>A
NM_000256.3:c.2414-15C>A , LRG_386t1:c.2414-15C>A MANE Select	NP_000247.2:n.2414-15C>A
XM_011520117.1:c.2396-15C>A	XP_011518419.1:n.2396-15C>A
XM_011520118.1:c.2333-15C>A	XP_011518420.1:n.2333-15C>A