Canonical Allele Identifier: CA380328663
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 848698
dbSNP Id: rs2095891272

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343523T>C , CM000673.2:g.47343523T>C GRCh38
NC_000011.9:g.47365074T>C , CM000673.1:g.47365074T>C GRCh37
NC_000011.8:g.47321650T>C NCBI36
NG_007667.1:g.14180A>G , LRG_386:g.14180A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1192A>G MANE Select ENSP00000442795.1:p.Lys398Glu
ENST00000256993.8:c.1192A>G ENSP00000256993.5:p.Lys398Glu
ENST00000399249.6:c.1192A>G ENSP00000382193.2:p.Lys398Glu
ENST00000544791.1:c.1192A>G ENSP00000444259.1:p.Lys398Glu
ENST00000545968.5:c.1192A>G ENSP00000442795.1:p.Lys398Glu
NM_000256.3:c.1192A>G , LRG_386t1:c.1192A>G MANE Select NP_000247.2:p.Lys398Glu
XM_011520117.1:c.1174A>G XP_011518419.1:p.Lys392Glu
XM_011520118.1:c.1192A>G XP_011518420.1:p.Lys398Glu