Canonical Allele Identifier: CA345970487
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1398297
ClinVar RCV Id: RCV001912859
dbSNP Id: rs751291501
gnomAD v3: 2-21002635-T-G
gnomAD v4: 2-21002635-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002635T>G , CM000664.2:g.21002635T>G GRCh38
NC_000002.11:g.21225507T>G , CM000664.1:g.21225507T>G GRCh37
NC_000002.10:g.21079012T>G NCBI36
NG_011793.1:g.46439A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12787A>C MANE Select ENSP00000233242.1:p.Ile4263Leu
ENST00000616098.4:c.12787A>C ENSP00000477990.1:p.Ile4263Leu
NM_000384.2:c.12787A>C NP_000375.2:p.Ile4263Leu
XM_011532809.1:c.5870-3362A>C XP_011531111.1:n.5870-3362A>C
NM_000384.3:c.12787A>C MANE Select NP_000375.3:p.Ile4263Leu