Canonical Allele Identifier: CA2493482657
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663661224
gnomAD v4: 2-21023378-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023378A>C , CM000664.2:g.21023378A>C GRCh38
NC_000002.11:g.21246250A>C , CM000664.1:g.21246250A>C GRCh37
NC_000002.10:g.21099755A>C NCBI36
NG_011793.1:g.25696T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1910+147T>G ENSP00000501110.2:n.*1910+147T>G
ENST00000673882.2:c.*1910+147T>G ENSP00000501253.2:n.*1910+147T>G
ENST00000673739.1:c.2318+147T>G ENSP00000501110.1:n.2318+147T>G
ENST00000673882.1:c.2318+147T>G ENSP00000501253.1:n.2318+147T>G
ENST00000233242.5:c.2604+147T>G MANE Select ENSP00000233242.1:n.2604+147T>G
ENST00000616098.4:c.2604+147T>G ENSP00000477990.1:n.2604+147T>G
NM_000384.2:c.2604+147T>G NP_000375.2:n.2604+147T>G
XM_011532809.1:c.2604+147T>G XP_011531111.1:n.2604+147T>G
NM_000384.3:c.2604+147T>G MANE Select NP_000375.3:n.2604+147T>G