Canonical Allele Identifier: CA3419254
Gene: IL9 HGNC NCBI
COSMIC:
COSM4984999 (not active)
MyVariant.info:
GRCh38 chr5:g.135892476G>A
GRCh37 chr5:g.135228165G>A
Revel Score:
ENST00000274520 (MANE Select) 0.019
gnomAD v2:
5:135228165 G / A
gnomAD v3:
5:135892476 G / A
gnomAD v4:
chr5-135892476-G-A
Joint Max Group AF 0.12870041 (NFE)
Genomes Max Group AF 0.13177662 (NFE)
Exomes Max Group AF 0.1283886 (NFE)
dbSNP:
2069885
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135892476G>A , CM000667.2:g.135892476G>A GRCh38
NC_000005.9:g.135228165G>A , CM000667.1:g.135228165G>A GRCh37
NC_000005.8:g.135256064G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274520.2:c.350C>T MANE Select ENSP00000274520.1:p.Thr117Met
ENST00000274520.1:c.350C>T ENSP00000274520.1:p.Thr117Met
NM_000590.1:c.350C>T NP_000581.1:p.Thr117Met
NM_000590.2:c.350C>T MANE Select NP_000581.1:p.Thr117Met
Search 100 bp 5'
Search 100 bp 3'