Canonical Allele Identifier: CA1969332024
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095884738

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338419C>T , CM000673.2:g.47338419C>T GRCh38
NC_000011.9:g.47359970C>T , CM000673.1:g.47359970C>T GRCh37
NC_000011.8:g.47316546C>T NCBI36
NG_007667.1:g.19284G>A , LRG_386:g.19284G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2308+101G>A MANE Select ENSP00000442795.1:n.2308+101G>A
ENST00000256993.8:c.2308+101G>A ENSP00000256993.5:n.2308+101G>A
ENST00000399249.6:c.2308+101G>A ENSP00000382193.2:n.2308+101G>A
ENST00000544791.1:c.2308+101G>A ENSP00000444259.1:n.2308+101G>A
ENST00000545968.5:c.2308+101G>A ENSP00000442795.1:n.2308+101G>A
NM_000256.3:c.2308+101G>A , LRG_386t1:c.2308+101G>A MANE Select NP_000247.2:n.2308+101G>A
XM_011520117.1:c.2290+101G>A XP_011518419.1:n.2290+101G>A
XM_011520118.1:c.2227+101G>A XP_011518420.1:n.2227+101G>A