Canonical Allele Identifier: CA1837469
Gene: IL37 HGNC NCBI
COSMIC:
COSM4133011 (not active)
MyVariant.info:
GRCh38 chr2:g.112913833A>G
GRCh37 chr2:g.113671410A>G
Revel Score:
ENST00000263326 (MANE Select) 0.053
ENST00000353225 0.053
gnomAD v2:
2:113671410 A / G
gnomAD v3:
2:112913833 A / G
gnomAD v4:
chr2-112913833-A-G
Joint Max Group AF 0.80762661 (EAS)
Genomes Max Group AF 0.80170137 (EAS)
Exomes Max Group AF 0.82605592 (AMR)
ClinVar RCV:
RCV000946630
ClinVar Variation:
767816
dbSNP:
3811047
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112913833A>G , CM000664.2:g.112913833A>G GRCh38
NC_000002.11:g.113671410A>G , CM000664.1:g.113671410A>G GRCh37
NC_000002.10:g.113387881A>G NCBI36
NG_029219.1:g.5863A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263326.8:c.124A>G MANE Select ENSP00000263326.3:p.Thr42Ala
ENST00000263326.7:c.124A>G ENSP00000263326.3:p.Thr42Ala
ENST00000349806.7:c.82+739A>G ENSP00000263328.3:n.82+739A>G
ENST00000352179.7:c.82+739A>G ENSP00000263327.3:n.82+739A>G
ENST00000353225.7:c.124A>G ENSP00000309208.3:p.Thr42Ala
NM_014439.3:c.124A>G NP_055254.2:p.Thr42Ala
NM_173202.1:c.82+739A>G NP_775294.1:n.82+739A>G
NM_173203.1:c.82+739A>G NP_775295.1:n.82+739A>G
NM_173204.1:c.124A>G NP_775296.1:p.Thr42Ala
XM_011510963.1:c.124A>G XP_011509265.1:p.Thr42Ala
XM_011510964.1:c.124A>G XP_011509266.1:p.Thr42Ala
XM_011510963.3:c.124A>G XP_011509265.1:p.Thr42Ala
XM_011510964.3:c.124A>G XP_011509266.1:p.Thr42Ala
NM_014439.4:c.124A>G MANE Select NP_055254.2:p.Thr42Ala
NM_173202.2:c.82+739A>G NP_775294.1:n.82+739A>G
NM_173203.2:c.82+739A>G NP_775295.1:n.82+739A>G
NM_173204.2:c.124A>G NP_775296.1:p.Thr42Ala
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