Canonical Allele Identifier: CA1969333128

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095877393
• gnomAD v4: 11-47332012-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332012G>C , CM000673.2:g.47332012G>C	GRCh38
NC_000011.9:g.47353563G>C , CM000673.1:g.47353563G>C	GRCh37
NC_000011.8:g.47310139G>C	NCBI36
NG_007667.1:g.25691C>G , LRG_386:g.25691C>G
NG_029462.1:g.67637G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3814+60C>G MANE Select	ENSP00000442795.1:n.3814+60C>G
ENST00000256993.8:c.3814+60C>G	ENSP00000256993.5:n.3814+60C>G
ENST00000399249.6:c.3814+60C>G	ENSP00000382193.2:n.3814+60C>G
ENST00000545968.5:c.3814+60C>G	ENSP00000442795.1:n.3814+60C>G
NM_000256.3:c.3814+60C>G , LRG_386t1:c.3814+60C>G MANE Select	NP_000247.2:n.3814+60C>G
XM_011520117.1:c.3796+60C>G	XP_011518419.1:n.3796+60C>G
XM_011520118.1:c.3733+60C>G	XP_011518420.1:n.3733+60C>G