×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA382698646
Gene: APOA4
HGNC
NCBI
Linked Data
dbSNP Id:
rs5110
MyVariant Identifiers:
chr11:g.116691634C>G (hg19)
chr11:g.116820918C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116820918C>G , CM000673.2:g.116820918C>G
GRCh38
NC_000011.9:g.116691634C>G , CM000673.1:g.116691634C>G
GRCh37
NC_000011.8:g.116196844C>G
NCBI36
NG_012044.1:g.7378G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000357780.5:c.1140G>C
MANE Select
ENSP00000350425.3:p.Gln380His
ENST00000357780.4:c.1140G>C
ENSP00000350425.3:p.Gln380His
NM_000482.3:c.1140G>C
NP_000473.2:p.Gln380His
NM_000482.4:c.1140G>C
MANE Select
NP_000473.2:p.Gln380His
Search 100 bp 5'
Search 100 bp 3'