Canonical Allele Identifier: CA380315657
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333735C>G , CM000673.2:g.47333735C>G GRCh38
NC_000011.9:g.47355286C>G , CM000673.1:g.47355286C>G GRCh37
NC_000011.8:g.47311862C>G NCBI36
NG_007667.1:g.23968G>C , LRG_386:g.23968G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3012G>C MANE Select ENSP00000442795.1:p.Gln1004His
ENST00000256993.8:c.3012G>C ENSP00000256993.5:p.Gln1004His
ENST00000399249.6:c.3012G>C ENSP00000382193.2:p.Gln1004His
ENST00000545968.5:c.3012G>C ENSP00000442795.1:p.Gln1004His
NM_000256.3:c.3012G>C , LRG_386t1:c.3012G>C MANE Select NP_000247.2:p.Gln1004His
XM_011520117.1:c.2994G>C XP_011518419.1:p.Gln998His
XM_011520118.1:c.2931G>C XP_011518420.1:p.Gln977His