Canonical Allele Identifier: CA3401968
Gene: IL3 HGNC NCBI
COSMIC:
COSM4984997 (not active)
MyVariant.info:
GRCh38 chr5:g.132060785C>T
GRCh37 chr5:g.131396478C>T
Revel Score:
ENST00000296870 (MANE Select) 0.030
gnomAD v2:
5:131396478 C / T
gnomAD v3:
5:132060785 C / T
gnomAD v4:
chr5-132060785-C-T
Joint Max Group AF 0.53164332 (EAS)
Genomes Max Group AF 0.52533212 (EAS)
Exomes Max Group AF 0.53382464 (AFR)
dbSNP:
40401
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132060785C>T , CM000667.2:g.132060785C>T GRCh38
NC_000005.9:g.131396478C>T , CM000667.1:g.131396478C>T GRCh37
NC_000005.8:g.131424377C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296870.3:c.79C>T MANE Select ENSP00000296870.2:p.Pro27Ser
ENST00000296870.2:c.79C>T ENSP00000296870.2:p.Pro27Ser
NM_000588.3:c.79C>T NP_000579.2:p.Pro27Ser
XR_948784.1:n.228+686G>A
XR_948785.1:n.228+686G>A
XR_948786.1:n.211+686G>A
XR_001742531.1:n.243+686G>A
XR_948784.2:n.251+686G>A
XR_948785.2:n.251+686G>A
NM_000588.4:c.79C>T MANE Select NP_000579.2:p.Pro27Ser
Search 100 bp 5'
Search 100 bp 3'