Canonical Allele Identifier: CA7982018
Gene: IL27 HGNC NCBI
COSMIC:
COSM3754829 (not active)
MyVariant.info:
GRCh38 chr16:g.28502082A>G
GRCh37 chr16:g.28513403A>G
Revel Score:
ENST00000356897 (MANE Select) 0.046
gnomAD v2:
16:28513403 A / G
gnomAD v3:
16:28502082 A / G
gnomAD v4:
chr16-28502082-A-G
Joint Max Group AF 0.33747754 (AMR)
Genomes Max Group AF 0.32537126 (NFE)
Exomes Max Group AF 0.35409751 (AMR)
dbSNP:
181206
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28502082A>G , CM000678.2:g.28502082A>G GRCh38
NC_000016.9:g.28513403A>G , CM000678.1:g.28513403A>G GRCh37
NC_000016.8:g.28420904A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356897.1:c.356T>C MANE Select ENSP00000349365.1:p.Leu119Pro
ENST00000568075.1:c.-38T>C ENSP00000455990.1:n.-38T>C
NM_145659.3:c.356T>C MANE Select NP_663634.2:p.Leu119Pro
XM_011545780.1:c.362T>C XP_011544082.1:p.Leu121Pro
XM_011545780.2:c.362T>C XP_011544082.1:p.Leu121Pro
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