Canonical Allele Identifier: CA380329266
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343593C>A , CM000673.2:g.47343593C>A GRCh38
NC_000011.9:g.47365144C>A , CM000673.1:g.47365144C>A GRCh37
NC_000011.8:g.47321720C>A NCBI36
NG_007667.1:g.14110G>T , LRG_386:g.14110G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1122G>T MANE Select ENSP00000442795.1:p.Gln374His
ENST00000256993.8:c.1122G>T ENSP00000256993.5:p.Gln374His
ENST00000399249.6:c.1122G>T ENSP00000382193.2:p.Gln374His
ENST00000544791.1:c.1122G>T ENSP00000444259.1:p.Gln374His
ENST00000545968.5:c.1122G>T ENSP00000442795.1:p.Gln374His
NM_000256.3:c.1122G>T , LRG_386t1:c.1122G>T MANE Select NP_000247.2:p.Gln374His
XM_011520117.1:c.1104G>T XP_011518419.1:p.Gln368His
XM_011520118.1:c.1122G>T XP_011518420.1:p.Gln374His