Canonical Allele Identifier: CA214039
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35860983G>C
GRCh37 chr5:g.35861085G>C
Revel Score:
ENST00000303115 (MANE Select) 0.073
ENST00000343305 0.073
ENST00000506850 0.073
ENST00000511982 0.073
gnomAD v2:
5:35861085 G / C
gnomAD v3:
5:35860983 G / C
gnomAD v4:
chr5-35860983-G-C
Joint Max Group AF 0.00039854 (NFE)
Genomes Max Group AF 0.00027988 (NFE)
Exomes Max Group AF 0.00039955 (NFE)
ClinVar RCV:
RCV000030059
RCV000813303
ClinVar Variation:
36390
dbSNP:
148001159
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35860983G>C , CM000667.2:g.35860983G>C GRCh38
NC_000005.9:g.35861085G>C , CM000667.1:g.35861085G>C GRCh37
NC_000005.8:g.35896842G>C NCBI36
NG_009567.1:g.9095G>C , LRG_74:g.9095G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.214G>C MANE Select ENSP00000306157.3:p.Glu72Gln
ENST00000303115.7:c.214G>C ENSP00000306157.3:p.Glu72Gln
ENST00000506850.5:c.214G>C ENSP00000421207.1:p.Glu72Gln
ENST00000511031.1:n.348G>C
ENST00000511982.1:c.214G>C ENSP00000425309.1:p.Glu72Gln
ENST00000514217.5:c.214G>C ENSP00000427688.1:p.Glu72Gln
NM_002185.3:c.214G>C NP_002176.2:p.Glu72Gln
NR_120485.1:n.317G>C
XM_005248299.2:c.214G>C XP_005248356.1:p.Glu72Gln
XM_005248300.1:c.214G>C XP_005248357.1:p.Glu72Gln
XM_011514037.1:c.214G>C XP_011512339.1:p.Glu72Gln
NM_002185.4:c.214G>C NP_002176.2:p.Glu72Gln
NR_120485.2:n.343G>C
XM_005248299.4:c.214G>C XP_005248356.1:p.Glu72Gln
NM_002185.5:c.214G>C MANE Select NP_002176.2:p.Glu72Gln
NR_120485.3:n.301G>C
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