Canonical Allele Identifier: CA7982079
Gene: IL27 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28503907A>C
GRCh37 chr16:g.28515228A>C
Revel Score:
ENST00000356897 (MANE Select) 0.078
gnomAD v2:
16:28515228 A / C
gnomAD v3:
16:28503907 A / C
gnomAD v4:
chr16-28503907-A-C
Joint Max Group AF 0.10778094 (EAS)
Genomes Max Group AF 0.10010666 (EAS)
Exomes Max Group AF 0.10798842 (EAS)
ClinVar RCV:
RCV001679094
ClinVar Variation:
1273271
dbSNP:
17855750
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28503907A>C , CM000678.2:g.28503907A>C GRCh38
NC_000016.9:g.28515228A>C , CM000678.1:g.28515228A>C GRCh37
NC_000016.8:g.28422729A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356897.1:c.175T>G MANE Select ENSP00000349365.1:p.Ser59Ala
ENST00000568075.1:c.-219T>G ENSP00000455990.1:n.-219T>G
NM_145659.3:c.175T>G MANE Select NP_663634.2:p.Ser59Ala
XM_011545780.1:c.181T>G XP_011544082.1:p.Ser61Ala
XM_011545780.2:c.181T>G XP_011544082.1:p.Ser61Ala
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