Canonical Allele Identifier: CA214043
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35867437G>A
GRCh37 chr5:g.35867539G>A
Revel Score:
ENST00000303115 (MANE Select) 0.437
ENST00000343305 0.437
ENST00000506850 0.437
ENST00000511982 0.437
gnomAD v2:
5:35867539 G / A
gnomAD v3:
5:35867437 G / A
gnomAD v4:
chr5-35867437-G-A
Joint Max Group AF 0.00004289 (AMR)
Genomes Max Group AF 0.00005299 (AMR)
Exomes Max Group AF 0.00001782 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35867437G>A , CM000667.2:g.35867437G>A GRCh38
NC_000005.9:g.35867539G>A , CM000667.1:g.35867539G>A GRCh37
NC_000005.8:g.35903296G>A NCBI36
NG_009567.1:g.15549G>A , LRG_74:g.15549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.353G>A MANE Select ENSP00000306157.3:p.Cys118Tyr
ENST00000303115.7:c.353G>A ENSP00000306157.3:p.Cys118Tyr
ENST00000506850.5:c.353G>A ENSP00000421207.1:p.Cys118Tyr
ENST00000511031.1:n.487G>A
ENST00000511982.1:c.353G>A ENSP00000425309.1:p.Cys118Tyr
ENST00000514217.5:c.353G>A ENSP00000427688.1:p.Cys118Tyr
NM_002185.3:c.353G>A NP_002176.2:p.Cys118Tyr
NR_120485.1:n.456G>A
XM_005248299.2:c.353G>A XP_005248356.1:p.Cys118Tyr
XM_005248300.1:c.353G>A XP_005248357.1:p.Cys118Tyr
XM_011514037.1:c.353G>A XP_011512339.1:p.Cys118Tyr
NM_002185.4:c.353G>A NP_002176.2:p.Cys118Tyr
NR_120485.2:n.482G>A
XM_005248299.4:c.353G>A XP_005248356.1:p.Cys118Tyr
NM_002185.5:c.353G>A MANE Select NP_002176.2:p.Cys118Tyr
NR_120485.3:n.440G>A
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