Canonical Allele Identifier: CA1969331896
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095884625

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338269T>G , CM000673.2:g.47338269T>G GRCh38
NC_000011.9:g.47359820T>G , CM000673.1:g.47359820T>G GRCh37
NC_000011.8:g.47316396T>G NCBI36
NG_007667.1:g.19434A>C , LRG_386:g.19434A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2308+251A>C MANE Select ENSP00000442795.1:n.2308+251A>C
ENST00000256993.8:c.2308+251A>C ENSP00000256993.5:n.2308+251A>C
ENST00000399249.6:c.2308+251A>C ENSP00000382193.2:n.2308+251A>C
ENST00000544791.1:c.2308+251A>C ENSP00000444259.1:n.2308+251A>C
ENST00000545968.5:c.2308+251A>C ENSP00000442795.1:n.2308+251A>C
NM_000256.3:c.2308+251A>C , LRG_386t1:c.2308+251A>C MANE Select NP_000247.2:n.2308+251A>C
XM_011520117.1:c.2290+251A>C XP_011518419.1:n.2290+251A>C
XM_011520118.1:c.2227+251A>C XP_011518420.1:n.2227+251A>C