Canonical Allele Identifier: CA066862
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 334109
dbSNP Id: rs142422341
gnomAD v2: 2-21229929-C-T
gnomAD v3: 2-21007057-C-T
gnomAD v4: 2-21007057-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007057C>T , CM000664.2:g.21007057C>T GRCh38
NC_000002.11:g.21229929C>T , CM000664.1:g.21229929C>T GRCh37
NC_000002.10:g.21083434C>T NCBI36
NG_011793.1:g.42017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9811G>A MANE Select ENSP00000233242.1:p.Gly3271Ser
ENST00000616098.4:c.9811G>A ENSP00000477990.1:p.Gly3271Ser
NM_000384.2:c.9811G>A NP_000375.2:p.Gly3271Ser
XM_011532809.1:c.5869+3676G>A XP_011531111.1:n.5869+3676G>A
NM_000384.3:c.9811G>A MANE Select NP_000375.3:p.Gly3271Ser