Canonical Allele Identifier: CA380314480
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333313C>G , CM000673.2:g.47333313C>G GRCh38
NC_000011.9:g.47354864C>G , CM000673.1:g.47354864C>G GRCh37
NC_000011.8:g.47311440C>G NCBI36
NG_007667.1:g.24390G>C , LRG_386:g.24390G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3211G>C MANE Select ENSP00000442795.1:p.Asp1071His
ENST00000256993.8:c.3211G>C ENSP00000256993.5:p.Asp1071His
ENST00000399249.6:c.3211G>C ENSP00000382193.2:p.Asp1071His
ENST00000545968.5:c.3211G>C ENSP00000442795.1:p.Asp1071His
NM_000256.3:c.3211G>C , LRG_386t1:c.3211G>C MANE Select NP_000247.2:p.Asp1071His
XM_011520117.1:c.3193G>C XP_011518419.1:p.Asp1065His
XM_011520118.1:c.3130G>C XP_011518420.1:p.Asp1044His