Canonical Allele Identifier: CA047413
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs578110460
gnomAD v2: 2-21227954-T-C
gnomAD v3: 2-21005082-T-C
gnomAD v4: 2-21005082-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21005082T>C , CM000664.2:g.21005082T>C GRCh38
NC_000002.11:g.21227954T>C , CM000664.1:g.21227954T>C GRCh37
NC_000002.10:g.21081459T>C NCBI36
NG_011793.1:g.43992A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.11786A>G MANE Select ENSP00000233242.1:p.Asn3929Ser
ENST00000616098.4:c.11786A>G ENSP00000477990.1:p.Asn3929Ser
NM_000384.2:c.11786A>G NP_000375.2:p.Asn3929Ser
XM_011532809.1:c.5869+5651A>G XP_011531111.1:n.5869+5651A>G
NM_000384.3:c.11786A>G MANE Select NP_000375.3:p.Asn3929Ser