Canonical Allele Identifier: CA345988541
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 897107
dbSNP Id: rs1393956366
gnomAD v2: 2-21229898-G-T
gnomAD v3: 2-21007026-G-T
gnomAD v4: 2-21007026-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007026G>T , CM000664.2:g.21007026G>T GRCh38
NC_000002.11:g.21229898G>T , CM000664.1:g.21229898G>T GRCh37
NC_000002.10:g.21083403G>T NCBI36
NG_011793.1:g.42048C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9842C>A MANE Select ENSP00000233242.1:p.Pro3281His
ENST00000616098.4:c.9842C>A ENSP00000477990.1:p.Pro3281His
NM_000384.2:c.9842C>A NP_000375.2:p.Pro3281His
XM_011532809.1:c.5869+3707C>A XP_011531111.1:n.5869+3707C>A
NM_000384.3:c.9842C>A MANE Select NP_000375.3:p.Pro3281His