Canonical Allele Identifier: CA160114
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 134533
dbSNP Id: rs3194051
gnomAD v2: 5-35876274-A-G
gnomAD v3: 5-35876172-A-G
gnomAD v4: 5-35876172-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876172A>G , CM000667.2:g.35876172A>G GRCh38
NC_000005.9:g.35876274A>G , CM000667.1:g.35876274A>G GRCh37
NC_000005.8:g.35912031A>G NCBI36
NG_009567.1:g.24284A>G , LRG_74:g.24284A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.1066A>G MANE Select ENSP00000306157.3:p.Ile356Val
ENST00000303115.7:c.1066A>G ENSP00000306157.3:p.Ile356Val
ENST00000505093.1:c.381A>G ENSP00000426069.1:n.381A>G
ENST00000505875.1:n.364A>G
ENST00000514217.5:c.*260A>G ENSP00000427688.1:n.*260A>G
NM_002185.3:c.1066A>G NP_002176.2:p.Ile356Val
NR_120485.1:n.906A>G
NM_002185.4:c.1066A>G NP_002176.2:p.Ile356Val
NR_120485.2:n.932A>G
XM_005248299.4:c.*183A>G XP_005248356.1:n.*183A>G
NM_002185.5:c.1066A>G MANE Select NP_002176.2:p.Ile356Val
NR_120485.3:n.890A>G