Canonical Allele Identifier: CA160111
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 134532
ClinVar RCV Id: RCV000121221 RCV000532907 RCV001572755
dbSNP Id: rs41270321
ExAC: 5:35876251 A / C
gnomAD v2: 5-35876251-A-C
gnomAD v3: 5-35876149-A-C
gnomAD v4: 5-35876149-A-C
MyVariant Identifiers: chr5:g.35876251A>C (hg19) chr5:g.35876149A>C (hg38)
ERepo: CA160111/MONDO:0012163/119
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876149A>C , CM000667.2:g.35876149A>C GRCh38
NC_000005.9:g.35876251A>C , CM000667.1:g.35876251A>C GRCh37
NC_000005.8:g.35912008A>C NCBI36
NG_009567.1:g.24261A>C , LRG_74:g.24261A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.1043A>C MANE Select ENSP00000306157.3:p.Asn348Thr
ENST00000303115.7:c.1043A>C ENSP00000306157.3:p.Asn348Thr
ENST00000505093.1:c.358A>C ENSP00000426069.1:n.358A>C
ENST00000505875.1:n.341A>C
ENST00000514217.5:c.*237A>C ENSP00000427688.1:n.*237A>C
NM_002185.3:c.1043A>C NP_002176.2:p.Asn348Thr
NR_120485.1:n.883A>C
XM_005248299.2:c.*160A>C XP_005248356.1:n.*160A>C
NM_002185.4:c.1043A>C NP_002176.2:p.Asn348Thr
NR_120485.2:n.909A>C
XM_005248299.4:c.*160A>C XP_005248356.1:n.*160A>C
NM_002185.5:c.1043A>C MANE Select NP_002176.2:p.Asn348Thr
NR_120485.3:n.867A>C
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