Canonical Allele Identifier: CA345970588
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002684G>C , CM000664.2:g.21002684G>C GRCh38
NC_000002.11:g.21225556G>C , CM000664.1:g.21225556G>C GRCh37
NC_000002.10:g.21079061G>C NCBI36
NG_011793.1:g.46390C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12738C>G MANE Select ENSP00000233242.1:p.Phe4246Leu
ENST00000616098.4:c.12738C>G ENSP00000477990.1:p.Phe4246Leu
NM_000384.2:c.12738C>G NP_000375.2:p.Phe4246Leu
XM_011532809.1:c.5870-3411C>G XP_011531111.1:n.5870-3411C>G
NM_000384.3:c.12738C>G MANE Select NP_000375.3:p.Phe4246Leu