Canonical Allele Identifier: CA380314489
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 657397
ClinVar RCV Id: RCV000813989
dbSNP Id: rs1595841598

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333315T>C , CM000673.2:g.47333315T>C GRCh38
NC_000011.9:g.47354866T>C , CM000673.1:g.47354866T>C GRCh37
NC_000011.8:g.47311442T>C NCBI36
NG_007667.1:g.24388A>G , LRG_386:g.24388A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3209A>G MANE Select ENSP00000442795.1:p.Gln1070Arg
ENST00000256993.8:c.3209A>G ENSP00000256993.5:p.Gln1070Arg
ENST00000399249.6:c.3209A>G ENSP00000382193.2:p.Gln1070Arg
ENST00000545968.5:c.3209A>G ENSP00000442795.1:p.Gln1070Arg
NM_000256.3:c.3209A>G , LRG_386t1:c.3209A>G MANE Select NP_000247.2:p.Gln1070Arg
XM_011520117.1:c.3191A>G XP_011518419.1:p.Gln1064Arg
XM_011520118.1:c.3128A>G XP_011518420.1:p.Gln1043Arg