Canonical Allele Identifier: CA345969735
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2926072
ClinVar RCV Id: RCV003786358
dbSNP Id: rs1663006964
gnomAD v3: 2-21002391-A-C
gnomAD v4: 2-21002391-A-C
MyVariant Identifiers: chr2:g.21225263A>C (hg19) chr2:g.21002391A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002391A>C , CM000664.2:g.21002391A>C GRCh38
NC_000002.11:g.21225263A>C , CM000664.1:g.21225263A>C GRCh37
NC_000002.10:g.21078768A>C NCBI36
NG_011793.1:g.46683T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13031T>G MANE Select ENSP00000233242.1:p.Val4344Gly
ENST00000616098.4:c.13029T>G ENSP00000477990.1:p.Cys4343Trp
NM_000384.2:c.13031T>G NP_000375.2:p.Val4344Gly
XM_011532809.1:c.5870-3118T>G XP_011531111.1:n.5870-3118T>G
NM_000384.3:c.13031T>G MANE Select NP_000375.3:p.Val4344Gly
Search 100 bp 5'
Search 100 bp 3'