Canonical Allele Identifier: CA345970312
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1417369651
gnomAD v2: 2-21225426-G-C
gnomAD v4: 2-21002554-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002554G>C , CM000664.2:g.21002554G>C GRCh38
NC_000002.11:g.21225426G>C , CM000664.1:g.21225426G>C GRCh37
NC_000002.10:g.21078931G>C NCBI36
NG_011793.1:g.46520C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12868C>G MANE Select ENSP00000233242.1:p.Leu4290Val
ENST00000616098.4:c.12868C>G ENSP00000477990.1:p.Leu4290Val
NM_000384.2:c.12868C>G NP_000375.2:p.Leu4290Val
XM_011532809.1:c.5870-3281C>G XP_011531111.1:n.5870-3281C>G
NM_000384.3:c.12868C>G MANE Select NP_000375.3:p.Leu4290Val