Canonical Allele Identifier: CA214052
Gene: IL7R HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.35873559G>A
GRCh37 chr5:g.35873661G>A
Revel Score:
ENST00000303115 (MANE Select) 0.686
ENST00000343305 0.686
ENST00000506850 0.686
ENST00000505093 0.686
gnomAD v2:
5:35873661 G / A
gnomAD v3:
5:35873559 G / A
gnomAD v4:
chr5-35873559-G-A
Joint Max Group AF 0.00001883 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar Allele:
45058
ClinVar RCV:
RCV000030064
RCV000690335
ClinVar Variation:
36395
dbSNP:
193922644
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35873559G>A , CM000667.2:g.35873559G>A GRCh38
NC_000005.9:g.35873661G>A , CM000667.1:g.35873661G>A GRCh37
NC_000005.8:g.35909418G>A NCBI36
NG_009567.1:g.21671G>A , LRG_74:g.21671G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.617G>A MANE Select ENSP00000306157.3:p.Arg206Gln
ENST00000303115.7:c.617G>A ENSP00000306157.3:p.Arg206Gln
ENST00000505093.1:c.26G>A ENSP00000426069.1:p.Arg9Gln
ENST00000506850.5:c.617G>A ENSP00000421207.1:p.Arg206Gln
ENST00000509668.1:n.359G>A
ENST00000514217.5:c.538-1953G>A ENSP00000427688.1:n.538-1953G>A
NM_002185.3:c.617G>A NP_002176.2:p.Arg206Gln
NR_120485.1:n.641-1953G>A
XM_005248299.2:c.617G>A XP_005248356.1:p.Arg206Gln
XM_005248300.1:c.617G>A XP_005248357.1:p.Arg206Gln
XM_011514037.1:c.617G>A XP_011512339.1:p.Arg206Gln
NM_002185.4:c.617G>A NP_002176.2:p.Arg206Gln
NR_120485.2:n.667-1953G>A
XM_005248299.4:c.617G>A XP_005248356.1:p.Arg206Gln
NM_002185.5:c.617G>A MANE Select NP_002176.2:p.Arg206Gln
NR_120485.3:n.625-1953G>A
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