Canonical Allele Identifier: CA2596115367

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2142860687
• gnomAD v3: 11-47342440-A-G
• gnomAD v4: 11-47342440-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342440A>G , CM000673.2:g.47342440A>G	GRCh38
NC_000011.9:g.47363991A>G , CM000673.1:g.47363991A>G	GRCh37
NC_000011.8:g.47320567A>G	NCBI36
NG_007667.1:g.15263T>C , LRG_386:g.15263T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1624+138T>C MANE Select	ENSP00000442795.1:n.1624+138T>C
ENST00000256993.8:c.1624+138T>C	ENSP00000256993.5:n.1624+138T>C
ENST00000399249.6:c.1624+138T>C	ENSP00000382193.2:n.1624+138T>C
ENST00000544791.1:c.1624+138T>C	ENSP00000444259.1:n.1624+138T>C
ENST00000545968.5:c.1624+138T>C	ENSP00000442795.1:n.1624+138T>C
NM_000256.3:c.1624+138T>C , LRG_386t1:c.1624+138T>C MANE Select	NP_000247.2:n.1624+138T>C
XM_011520117.1:c.1606+138T>C	XP_011518419.1:n.1606+138T>C
XM_011520118.1:c.1624+138T>C	XP_011518420.1:n.1624+138T>C