Canonical Allele Identifier: CA124390
Gene: IL7R HGNC NCBI

Linked Data

ClinVar Variation Id: 14839
ClinVar RCV Id: RCV000121212 RCV001701567 RCV000015964
dbSNP Id: rs1494558
ExAC: 5:35861068 T / C
gnomAD v2: 5-35861068-T-C
gnomAD v3: 5-35860966-T-C
gnomAD v4: 5-35860966-T-C
MyVariant Identifiers: chr5:g.35861068T>C (hg19) chr5:g.35860966T>C (hg38)
PubMed: PMID:9843216 PMID:24728327
ERepo: CA124390/MONDO:0012163/119
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35860966T>C , CM000667.2:g.35860966T>C GRCh38
NC_000005.9:g.35861068T>C , CM000667.1:g.35861068T>C GRCh37
NC_000005.8:g.35896825T>C NCBI36
NG_009567.1:g.9078T>C , LRG_74:g.9078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303115.8:c.197T>C MANE Select ENSP00000306157.3:p.Ile66Thr
ENST00000303115.7:c.197T>C ENSP00000306157.3:p.Ile66Thr
ENST00000506850.5:c.197T>C ENSP00000421207.1:p.Ile66Thr
ENST00000511031.1:n.331T>C
ENST00000511982.1:c.197T>C ENSP00000425309.1:p.Ile66Thr
ENST00000514217.5:c.197T>C ENSP00000427688.1:p.Ile66Thr
NM_002185.3:c.197T>C NP_002176.2:p.Ile66Thr
NR_120485.1:n.300T>C
XM_005248299.2:c.197T>C XP_005248356.1:p.Ile66Thr
XM_005248300.1:c.197T>C XP_005248357.1:p.Ile66Thr
XM_011514037.1:c.197T>C XP_011512339.1:p.Ile66Thr
NM_002185.4:c.197T>C NP_002176.2:p.Ile66Thr
NR_120485.2:n.326T>C
XM_005248299.4:c.197T>C XP_005248356.1:p.Ile66Thr
NM_002185.5:c.197T>C MANE Select NP_002176.2:p.Ile66Thr
NR_120485.3:n.284T>C
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