Canonical Allele Identifier: CA2658054411
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001690-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001690A>G , CM000664.2:g.21001690A>G GRCh38
NC_000002.11:g.21224562A>G , CM000664.1:g.21224562A>G GRCh37
NC_000002.10:g.21078067A>G NCBI36
NG_011793.1:g.47384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*40T>C MANE Select ENSP00000233242.1:n.*40T>C
ENST00000616098.4:c.13730T>C ENSP00000477990.1:n.13730T>C
NM_000384.2:c.*40T>C NP_000375.2:n.*40T>C
XM_011532809.1:c.5870-2417T>C XP_011531111.1:n.5870-2417T>C
NM_000384.3:c.*40T>C MANE Select NP_000375.3:n.*40T>C