Canonical Allele Identifier: CA345979270
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2531344
ClinVar RCV Id: RCV004301703
dbSNP Id: rs1410760521
gnomAD v2: 2-21228351-A-T
gnomAD v4: 2-21005479-A-T
MyVariant Identifiers: chr2:g.21228351A>T (hg19) chr2:g.21005479A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005479A>T , CM000664.2:g.21005479A>T GRCh38
NC_000002.11:g.21228351A>T , CM000664.1:g.21228351A>T GRCh37
NC_000002.10:g.21081856A>T NCBI36
NG_011793.1:g.43595T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.11389T>A MANE Select ENSP00000233242.1:p.Leu3797Ile
ENST00000616098.4:c.11389T>A ENSP00000477990.1:p.Leu3797Ile
NM_000384.2:c.11389T>A NP_000375.2:p.Leu3797Ile
XM_011532809.1:c.5869+5254T>A XP_011531111.1:n.5869+5254T>A
NM_000384.3:c.11389T>A MANE Select NP_000375.3:p.Leu3797Ile
Search 100 bp 5'
Search 100 bp 3'