Canonical Allele Identifier: CA124393
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35871088G>A
GRCh37 chr5:g.35871190G>A
Revel Score:
ENST00000303115 (MANE Select) 0.228
ENST00000343305 0.228
ENST00000506850 0.228
gnomAD v2:
5:35871190 G / A
gnomAD v3:
5:35871088 G / A
gnomAD v4:
chr5-35871088-G-A
Joint Max Group AF 0.87056382 (AFR)
Genomes Max Group AF 0.8633954 (AFR)
Exomes Max Group AF 0.87428164 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35871088G>A , CM000667.2:g.35871088G>A GRCh38
NC_000005.9:g.35871190G>A , CM000667.1:g.35871190G>A GRCh37
NC_000005.8:g.35906947G>A NCBI36
NG_009567.1:g.19200G>A , LRG_74:g.19200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.412G>A MANE Select ENSP00000306157.3:p.Val138Ile
ENST00000303115.7:c.412G>A ENSP00000306157.3:p.Val138Ile
ENST00000506850.5:c.412G>A ENSP00000421207.1:p.Val138Ile
ENST00000514217.5:c.412G>A ENSP00000427688.1:p.Val138Ile
NM_002185.3:c.412G>A NP_002176.2:p.Val138Ile
NR_120485.1:n.515G>A
XM_005248299.2:c.412G>A XP_005248356.1:p.Val138Ile
XM_005248300.1:c.412G>A XP_005248357.1:p.Val138Ile
XM_011514037.1:c.412G>A XP_011512339.1:p.Val138Ile
NM_002185.4:c.412G>A NP_002176.2:p.Val138Ile
NR_120485.2:n.541G>A
XM_005248299.4:c.412G>A XP_005248356.1:p.Val138Ile
NM_002185.5:c.412G>A MANE Select NP_002176.2:p.Val138Ile
NR_120485.3:n.499G>A
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