Canonical Allele Identifier: CA937665093

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1595840476
• gnomAD v3: 11-47331994-A-G
• gnomAD v4: 11-47331994-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47331994A>G , CM000673.2:g.47331994A>G	GRCh38
NC_000011.9:g.47353545A>G , CM000673.1:g.47353545A>G	GRCh37
NC_000011.8:g.47310121A>G	NCBI36
NG_007667.1:g.25709T>C , LRG_386:g.25709T>C
NG_029462.1:g.67619A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3814+78T>C MANE Select	ENSP00000442795.1:n.3814+78T>C
ENST00000256993.8:c.3814+78T>C	ENSP00000256993.5:n.3814+78T>C
ENST00000399249.6:c.3814+78T>C	ENSP00000382193.2:n.3814+78T>C
ENST00000545968.5:c.3814+78T>C	ENSP00000442795.1:n.3814+78T>C
NM_000256.3:c.3814+78T>C , LRG_386t1:c.3814+78T>C MANE Select	NP_000247.2:n.3814+78T>C
XM_011520117.1:c.3796+78T>C	XP_011518419.1:n.3796+78T>C
XM_011520118.1:c.3733+78T>C	XP_011518420.1:n.3733+78T>C