Canonical Allele Identifier: CA050982
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 630237
ClinVar RCV Id: RCV001256758 RCV002370043 RCV002535534
dbSNP Id: rs200260789
ExAC: 2:21225558 A / C
gnomAD v2: 2-21225558-A-C
gnomAD v3: 2-21002686-A-C
gnomAD v4: 2-21002686-A-C
MyVariant Identifiers: chr2:g.21225558A>C (hg19) chr2:g.21002686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002686A>C , CM000664.2:g.21002686A>C GRCh38
NC_000002.11:g.21225558A>C , CM000664.1:g.21225558A>C GRCh37
NC_000002.10:g.21079063A>C NCBI36
NG_011793.1:g.46388T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12736T>G MANE Select ENSP00000233242.1:p.Phe4246Val
ENST00000616098.4:c.12736T>G ENSP00000477990.1:p.Phe4246Val
NM_000384.2:c.12736T>G NP_000375.2:p.Phe4246Val
XM_011532809.1:c.5870-3413T>G XP_011531111.1:n.5870-3413T>G
NM_000384.3:c.12736T>G MANE Select NP_000375.3:p.Phe4246Val
Search 100 bp 5'
Search 100 bp 3'