Canonical Allele Identifier: CA345966988
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1770838
ClinVar RCV Id: RCV002383495
dbSNP Id: rs1219325740
gnomAD v3: 2-21001807-G-T
gnomAD v4: 2-21001807-G-T
MyVariant Identifiers: chr2:g.21224679G>T (hg19) chr2:g.21001807G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001807G>T , CM000664.2:g.21001807G>T GRCh38
NC_000002.11:g.21224679G>T , CM000664.1:g.21224679G>T GRCh37
NC_000002.10:g.21078184G>T NCBI36
NG_011793.1:g.47267C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13615C>A MANE Select ENSP00000233242.1:p.Leu4539Met
ENST00000616098.4:c.13613C>A ENSP00000477990.1:n.13613C>A
NM_000384.2:c.13615C>A NP_000375.2:p.Leu4539Met
XM_011532809.1:c.5870-2534C>A XP_011531111.1:n.5870-2534C>A
NM_000384.3:c.13615C>A MANE Select NP_000375.3:p.Leu4539Met
Search 100 bp 5'
Search 100 bp 3'